VariantValidator Format Genomic To Transcripts
Project a genomic variant onto EVERY overlapping RefSeq transcript in one call using the VariantValidator VariantFormatter endpoint. Given a genomic-level variant (g.HGVS like 'NC_000017.11:g.50198002C>A' or a pseudo-VCF string like '17-50198002-C-A') on GRCh37 or GRCh38, returns the per-transcript coding (c.) HGVS, predicted protein (p.) consequence in three- and single-letter codes, gene info (HGNC id + symbol), the pseudo-VCF representation, and MANE Select / RefSeq Select flags for each tra…
Overview
Project a genomic variant onto EVERY overlapping RefSeq transcript in one call using the VariantValidator VariantFormatter endpoint. Given a genomic-level variant (g.HGVS like 'NC_000017.11:g.50198002C>A' or a pseudo-VCF string like '17-50198002-C-A') on GRCh37 or GRCh38, returns the per-transcript coding (c.) HGVS, predicted protein (p.) consequence in three- and single-letter codes, gene info (HGNC id + symbol), the pseudo-VCF representation, and MANE Select / RefSeq Select flags for each transcript. Use this when you need all transcript projections for a genomic variant; the standard VariantValidator_validate_variant endpoint no longer accepts select_transcripts='all' for genomic input (it returns HTTP 404 directing callers to VariantFormatter), so this is the only way to reach this capability in Cortexa Tool Mesh. Public API, no key required.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default VariantValidator Format Genomic To Transcripts call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_VariantValidator_format_genomic_to_transcripts
- Tool name
- VariantValidator_format_genomic_to_transcripts
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse