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

Bioinformatics (Oxford, England) - 15 Aug 2010

McLaren William, Pritchard Bethan, Rios Daniel, Chen Yuan, Flicek Paul, Cunningham Fiona

Abstract excerpt

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...

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PMID: 20562413
DOI: 10.1093/bioinformatics/btq330
PMCID: PMC2916720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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