GenomeNexus Annotate Dbsnp
Annotate a variant directly by its dbSNP rsID using Genome Nexus (Memorial Sloan Kettering). Genome Nexus resolves the rsID to genomic coordinates and returns aggregated annotation from VEP, SIFT, PolyPhen-2, AlphaMissense, and cancer hotspots, plus an annotation summary with the genomic location (chromosome/start/end) and HGVS protein notation. Use this when you have a dbSNP rsID rather than HGVS coordinates. Example: 'rs121913529' (KRAS G12 codon) returns 12 transcript consequences, gene KRAS…
Overview
Annotate a variant directly by its dbSNP rsID using Genome Nexus (Memorial Sloan Kettering). Genome Nexus resolves the rsID to genomic coordinates and returns aggregated annotation from VEP, SIFT, PolyPhen-2, AlphaMissense, and cancer hotspots, plus an annotation summary with the genomic location (chromosome/start/end) and HGVS protein notation. Use this when you have a dbSNP rsID rather than HGVS coordinates. Example: 'rs121913529' (KRAS G12 codon) returns 12 transcript consequences, gene KRAS, SIFT 'deleterious', PolyPhen 'probably_damaging', AlphaMissense score 0.9949 (pathogenic), genomic location chr12:25398284.
Schema
JSON Schema the agent (or your API call) must match.
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Examples (1)
Default GenomeNexus Annotate Dbsnp call
Public-safe example · rate-limited
Identifiers
- Catalog ID
- tu_GenomeNexus_annotate_dbsnp
- Tool name
- GenomeNexus_annotate_dbsnp
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse