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

摘要

>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 . The Ensembl API ( for installation instructions) is open source software.>Contact: ; >Supplementary information: are available at Bioinformatics online.