GenomeNexus Annotate Mutation
Annotate a cancer mutation using Genome Nexus (MSK) by specifying chromosome, start, end, reference allele, and variant allele separately. This is an alternative to the HGVS-based annotation for when you have genomic coordinates directly (GRCh37/hg19). Returns the same comprehensive annotation as GenomeNexus_annotate_variant including VEP consequences, SIFT, PolyPhen, AlphaMissense scores, cancer hotspots, and mutation assessor. Example: chr=7, start=140453136, end=140453136, ref=A, alt=T for B…
Overview
Annotate a cancer mutation using Genome Nexus (MSK) by specifying chromosome, start, end, reference allele, and variant allele separately. This is an alternative to the HGVS-based annotation for when you have genomic coordinates directly (GRCh37/hg19). Returns the same comprehensive annotation as GenomeNexus_annotate_variant including VEP consequences, SIFT, PolyPhen, AlphaMissense scores, cancer hotspots, and mutation assessor. Example: chr=7, start=140453136, end=140453136, ref=A, alt=T for BRAF V600E.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default GenomeNexus Annotate Mutation call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_GenomeNexus_annotate_mutation
- Tool name
- GenomeNexus_annotate_mutation
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse