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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