GenomeNexus Annotate Variant
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 anno…
Overview
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 annotation summary with HGVS protein notation. This is the primary variant annotation tool for cancer genomics. Note: coordinates must be in GRCh37/hg19 assembly.
Status
The most recent probe succeeded. Safe to call from the agent today.
- Last probed
- 1d ago
- Last success
- 1d ago
- Last latency
- 124ms
Schema
JSON Schema the agent (or your API call) must match.
{
"properties": {
"hgvsg": {
"description": "Genomic variant in HGVS notation using GRCh37/hg19 coordinates. Format: 'chr:g.posRef>Alt'. Examples: '7:g.140453136A>T' (BRAF V600E), '17:g.7577120C>T' (TP53 R273H), '12:g.25398284C>T' (KRAS G12D).",
"type": "string"
}
},
"required": [
"hgvsg"
],
"type": "object"
}Examples (1)
Default GenomeNexus Annotate Variant call
{
"hgvsg": ""
}Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_GenomeNexus_annotate_variant
- Tool name
- GenomeNexus_annotate_variant
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse