Orangenomix VEP annotates VCF files with variant consequences at scale, on AWS Batch, eliminating complex setup and reference data management. Let your team focus on the science, not infrastructure.
Orangenomix VEP: Cost-Effective Variant Effect Prediction on AWS
Orangenomix VEP delivers fast, scalable Variant Consequence annotations for your VCF files - without the complexity of managing reference data, storage, or compute infrastructure. Built on the trusted open-source Ensembl Variant Effect Predictor (VEP), Orangenomix VEP eliminates the barriers that make running VEP difficult and expensive.
The Challenge with Traditional VEP
Running the Ensembl Variant Effect Predictor on your own typically requires downloading and maintaining 20 to 30 GB of reference data. Teams must provision compute resources, manage storage, keep variant databases up to date, and troubleshoot configuration issues. This overhead slows down research timelines and drives up costs, especially when processing large-scale genomic datasets.
How Orangenomix VEP Solves This
Orangenomix VEP handles all of the setup, configuration, and infrastructure management so your team can focus on interpreting results rather than wrestling with tooling.
Key outcomes you can expect:
Results in minutes, not hours - Feed your VCF files directly from Amazon S3 and start receiving Variant Consequence annotations quickly, with no manual provisioning required.
Always up-to-date variant databases - Access the latest reference data automatically, without downloading or storing tens of gigabytes of files on your own infrastructure.
Effortless scalability with AWS Batch - Process large genomic datasets at scale using AWS Batch, which dynamically provisions the compute resources you need and releases them when the job is done.
No storage or compute management - Eliminate the operational burden of maintaining reference data storage and compute clusters. Orangenomix VEP takes care of provisioning and teardown.
Cost-effective variant annotation - Run Variant Effect Prediction in the most cost-effective way on AWS, paying only for the resources your analysis actually consumes.
Seamless AWS Integration
Orangenomix VEP is designed to work natively with AWS services:
Amazon S3 - Read input VCF files and write annotated results directly to your S3 buckets.
AWS Batch - Automatically scale compute resources to match the size and complexity of your dataset.
This tight integration means there is no need to move data between platforms or configure complex pipelines. Your existing S3-based genomics workflows connect directly to Orangenomix VEP.
Who Is This For?
Orangenomix VEP is built for teams in healthcare and life sciences, bioinformatics, and data analytics who need reliable, scalable variant annotation:
Genomics researchers analyzing whole-genome or whole-exome sequencing data
Bioinformatics teams building or maintaining variant analysis pipelines
Clinical genomics groups requiring consistent, up-to-date variant annotations
Data science teams working with large-scale population genomics datasets
Get Started Quickly
With Orangenomix VEP, there is no complex installation or configuration process. Simply point the tool at your VCF files in Amazon S3, and the platform handles the rest - from provisioning compute through AWS Batch to delivering annotated results back to your S3 bucket. Start generating Variant Consequence annotations in minutes.
Highlights
Zero Setup for Variant Effect Prediction: Orangenomix VEP eliminates the need to download and manage the 20 to 30 GB of reference data typically required by the open source Ensembl VEP tool. All reference databases are preconfigured and always kept up to date, so you can focus on your analysis rather than infrastructure. Simply point to your VCF files in Amazon S3 and start receiving annotated results in minutes.
Scalable and Cost-Effective Genomic Analysis: Run variant consequence annotations efficiently over large datasets using AWS Batch. Orangenomix VEP handles compute provisioning automatically, delivering the most cost-effective way to run Variant Effect Prediction on AWS. There is no need to worry about storage capacity or scaling compute resources as your workloads grow.
Seamless AWS Integration and Fast Results: Orangenomix VEP integrates directly with Amazon S3 for data input and output, enabling a streamlined workflow for genomics teams. Feed your VCF data from S3 and receive variant annotations quickly, with always-current variant databases ensuring your results reflect the latest available scientific knowledge.
AWS Marketplace now accepts line of credit payments through the PNC Vendor Finance program. This program is available to select AWS customers in the US, excluding NV, NC, ND, TN, & VT.
You pay based on usage, measured by the number of annotation batches you run. There is one pricing dimension: vep_annotation_runs, charged per batch. Your cost scales directly with how many batches you process. Each batch runs on AWS Batch inside your own account, with data moving in and out of your S3 storage. If you run more batches, you pay for more units; if you run fewer, you pay less. There are no fixed tiers or instance-size choices to select.
Top-of-mind questions for buyers
What counts as one batch for billing under vep_annotation_runs?
A batch is one run of the annotation pipeline on AWS Batch. You drop VCF files into your S3 bucket and add a marker file to start a run. The pipeline creates one Batch job per sample. Results appear in a sibling S3 folder. Each triggered run counts toward your usage.
How does my cost change if I process many samples at once versus a few?
You are charged per batch you run, not per sample. When you drop more files, the compute fleet widens to match, then shuts down when done. Your batch count drives the software charge. Underlying AWS compute and S3 storage costs apply separately based on the resources your runs consume.
Am I charged if I set up the deployment but run no batches?
The vep_annotation_runs dimension charges per batch you actually run. If you deploy the CloudFormation stack but trigger no runs, no annotation charges accrue. You may still pay standard AWS fees for any resources the stack leaves running, but the software meter counts batches only.
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Version release notes
This is an optimized version that delivers the best performance for Variant Annotation. This version delivers the most cost-effective way of running VEP on AWS.
Additional details
Usage instructions
Identify where your data lives on S3.
Create and Drop your config file in the same folder.
Drop a dummy '_READY' marker in the same folder.
This will trigger processing in AWS Batch.
Results end up in a folder named after input folder, but with the '_output' suffix.
Monitor in Lambda.
For more details check instructions.
For support inquiries related to Orangenomix VEP, including usage questions, troubleshooting, and refund requests, please contact the Orangenomix team directly. Additional details on available support channels and response times will be provided upon subscription.
AWS infrastructure support
AWS Support is a one-on-one, fast-response support channel that is staffed 24x7x365 with experienced and technical support engineers. The service helps customers of all sizes and technical abilities to successfully utilize the products and features provided by Amazon Web Services.
Production-grade genomic variant calling with DeepVariant on AWS Batch. Scalable, fault-tolerant, and easy to deploy for bioinformatics teams processing large genomic datasets.
Overview
This dataset contains alignment files and small variant (includes single nucleotide variants (SNV) and indels), copy number variant (CNV), short tandem repeat (i.e., repeat expansion; STR), structural variant (SV) and other variant call files from the 1000 Genomes Project (1KGP) Phase 3 dataset (3,202 individuals, 602 trios) using Illumina DRAGEN v3.5.7b, v3.7.6, v4.0.3, v4.2.7, and v4.4.7 software.
All DRAGEN analyses were performed in the cloud using the Illumina Connected Analytics bioinformatics platform powered by Amazon Web Services (see 'Data solution empowering population genomics' for more information).
The v3.7.6, v4.2.7, and v4.4.7 datasets include results from trio small variant, de novo structural varia[...]
SnpEff is a variant annotation and effect prediction tool that annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes). It supports over 38,000 genomes and provides comprehensive genomic databases for variant annotation. The databases include reference genomes, gene annotations, protein sequences, and regulatory elements from trusted sources like ENSEMBL, RefSeq, and UCSC. SnpSift complements SnpEff by providing tools to annotate genomic variants using databases, filter large genomic datasets, and manipulate annotated variants. Together, these tools provide a complete solution for genomic variant analysis, supporting research in human genetics, cancer genomics, pharmacogenomics, and model organism studies.
VEP determines the effect of genetic variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. The European Bioinformatics Institute produces the VEP tool/db and releases updates every 1 - 6 months. The latest release contains 267 genomes from 232 species containing 5567663 protein coding genes. This dataset hosts the last 5 releases for human, rat, and zebrafish. Also, it hosts the required reference files for the Loss-Of-Function Transcript Effect Estimator (LOFTEE) plugin as it is commonly used with VEP.
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