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GenomeNexus annotate variant
by Harvard MIMS Lab (ToolUniverse)
Description
Annotate a genomic variant using Genome Nexus (Memorial Sloan Kettering), which aggregates variant annotations from multiple sources including VEP, SIFT, PolyPhen-2, AlphaMissense, cancer hotspots, and mutation assessor. Input is a GRCh37/hg19 HGVS genomic notation (e.g., '7:g.140453136A>T' for BRAF V600E, '17:g.7577120C>T' for TP53 R273H). Returns the most severe consequence, transcript consequences with pathogenicity scores (SIFT, PolyPhen, AlphaMissense), cancer hotspot information, and an...
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse genome-nexus variant-annotation cancer-genomics