EnsemblVEP Annotate Hgvs

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.