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Research tool·genomics·variant_validator

VariantValidator Validate Variant

Validate and convert genetic variant descriptions using VariantValidator. Takes HGVS-formatted variant notation and returns validated variant descriptions with genomic context, transcript context, protein consequence, and cross-references. Validates variant nomenclature against current RefSeq sequences and LOVD syntax checker. Supports substitutions, deletions, insertions, duplications, inversions. Reference assemblies: GRCh37 (hg19) or GRCh38 (hg38).

AvailableCortexa

Schema

JSON Schema the agent (or your API call) must match.

View JSON schemaExpandCollapse
JSON · 22 lines · 675 chars

Examples (1)

Default VariantValidator Validate Variant call

Public-safe example · rate-limited

JSON input · 5 lines · 119 chars
Expected response keys: success

Identifiers

Catalog ID
tu_VariantValidator_validate_variant
Tool name
VariantValidator_validate_variant
Added
2026-04-30 22:47Z
Tags
tooluniverse
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