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EnsemblVEP annotate hgvs
by Harvard MIMS Lab (ToolUniverse)
Description
Predict functional consequences of a genetic variant using HGVS notation via the Ensembl Variant Effect Predictor (VEP). Returns impact on genes, transcripts, and proteins including SIFT/PolyPhen pathogenicity scores, consequence types, amino acid changes, and colocated known variants. HGVS notation examples: 'BRAF:p.Val600Glu' (protein), 'ENST00000366667:c.803C>T' (coding DNA). This complements the existing region-based VEP tool by accepting standard clinical variant nomenclature.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse ensembl-vep variant-effect-prediction annotation