SnpEff

Genomic variant annotations and functional effect prediction toolbox.

Download SnpEff
Important: This version implements the new VCF annotation standard 'ANN' field.
Latest version 4.3q (2017-08-30)
Requires Java 1.8

In memory of Dr. Xiangyi Lu: Please donate

On October 22, 2017, Xiangyi Lu, a co-author on the SnpEff and SnpSift papers, died of ovarian cancer after a three year struggle. Douglas Ruden, Xiangyi's husband and senior author on the papers, has requested that a non-mandatory gift of at least $10 for using SnpEff or SnpSift be donated to WSU to honor Xiangyi Lu. All gifts will go to a newly named fund, the "Xiangyi Lu Graduate Student Fellowship in Bioinformatics Fund." with the goal of raising $1 million, in order to permanently endow one graduate student research position in bioinformatics every year.

How to donate

  • Visit Wayne State University donation site
  • Choose the amount that you would like to donate
  • Choose your payment type and if you would like this to be a recurring gift.
  • Click on the designation box and click on the option “Other”
  • In the next box, enter: IMO Dr. Xiangyi Lu
  • At the bottom of the page, click on “Give Now.”

Donation page example:

ClinEff (new)

Professional verison of SnpEff & SnpSift suites. ClinEff is considered more stable thus suitable for Clinical and Production operations, whereas SnpEff/SnpSfit is designed for Research and Academic usage.
Features:

  • Compliance support (CLIA and CAP)
  • Long Term Support
  • Prioritized bug fixes and feature development
  • Customized databases and annotation pipelines
  • Integration with open, private and proprietary databases
  • Privacy: Tickets, issues, pipeline-specific analysis

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SnpEff

Genetic variant annotation and functional effect prediction toolbox. It annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes).
Features:

  • Supports over 38,000 genomes.
  • Standard ANN annotation format
  • Cancer variants analysis
  • GATK compatible (-o gatk)
  • HGVS notation
  • Sequence Ontology standardized terms

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SnpSift

SnpSift annotates genomic variants using databases, filters, and manipulates genomic annotated variants. Once you annotated your files using SnpEff, you can use SnpSift to help you filter large genomic datasets in order to find the most significant variants for your experiment.

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Version 4.3

Features:

  • Significant improvements in translocations annotations
  • Improvements in large structural variant annotaions
  • Protein-Protein interaction loci annotations (from PDB)

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Paper & Citing

If you are using SnpEff or SnpSift in an research or academic environment, please cite our papers.

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Who uses SnpEff?

Users of SnpEff include most major research an academic institutions, as well as pharmaceutical companies and clinical sequencing projects.

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Galaxy, GATK & GKNO

SnpEff is integrated with other tools commonly used in sequencing data analysis pipelines. Most notably Galaxy, GATK and GKNO projects support SnpEff.

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