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Ensemble Variant Effect Predictor (SNP Effect Predictor)

Ensemble Variant Effect Predictor (SNP Effect Predictor)

A web and command-line tool to analyze and predict functional consequences of your variants, SNPs, indels, CNVs on genes, regulatory regions, transcripts, and protein sequences.

Topic

Biology, Genetics, Genotype and phenotype

Details

  • Operation: Analysis, Genotype and phenotype
  • Software interface: Command-line interface, web user interface, REST API
  • Language: Perl
  • License: Apache License 2.0
  • Cost: -
  • Version name: -
  • Maturity: Stable
  • Credit: McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F.
  • Contact: http://www.ensembl.org/info/about/contact/index.html
  • Collection: -

Publications

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F. "The Ensembl Variant Effect Predictor." Genome Biology Jun 6;17(1):122. (2016). https://doi.org/10.1186/s13059-016-0974-4
PMID: 27268795
PMCID: PMC4893825


McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F "Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor." Bioinformatics 2010; 26(16):2069-70 https://doi.org/10.1093/bioinformatics/btq330
PMID: 20562413
PMCID: PMC2916720


Download and documentation




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