Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Bioinformatics. 2010 Aug 15;26(16):2069-70. doi: 10.1093/bioinformatics/btq330. Epub 2010 Jun 18.

Abstract

Summary: A tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. In Ensembl, a web-based tool (the SNP Effect Predictor) and API interface can now functionally annotate variants in all Ensembl and Ensembl Genomes supported species.

Availability: The Ensembl SNP Effect Predictor can be accessed via the Ensembl website at http://www.ensembl.org/. The Ensembl API (http://www.ensembl.org/info/docs/api/api_installation.html for installation instructions) is open source software.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Variation*
  • Genomics*
  • Internet
  • Polymorphism, Single Nucleotide*
  • Software*