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Cortexa research tool·genomics·intervar

InterVar Classify Variant

Classify a germline variant using ACMG/AMP 2015 standards (InterVar). Returns the clinical significance category — Pathogenic, Likely Pathogenic, Uncertain Significance, Likely Benign, or Benign — plus the activation status of all 28 evidence criteria (PVS1, PS1-PS4, PM1-PM6, PP1-PP5, BA1, BP1-BP7, BS1-BS4). Input requires genomic coordinates in hg19 or hg38. No API key needed. Example: BRCA1 c.5266dupC (chr17:41245466 G>A in hg19) is Likely Pathogenic with PM2+PP3+PP5.

AvailableCortexa

Schema

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

JSON · 36 lines · 751 chars

Examples (1)

Default InterVar Classify Variant call

public-safeinput
JSON · 6 lines · 55 chars
Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID
tu_InterVar_classify_variant
Tool name
InterVar_classify_variant
Added
2026-05-01 00:58Z
Tags
tooluniverse
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