Classify or interpret a germline variant under ACMG/AMP
search_variant_evidenceUse when a user asks to classify or interpret pathogenicity, review a VUS, check available ClinVar assertions or population-frequency evidence, or resolve a variant notation. Classify, interpret or resolve one public GRCh38 germline SNV or simple indel smaller than 50 bp. Accepts coordinates, genomic/coding/protein HGVS, SPDI or rsID. Returns normalized variant identity, automated ACMG/AMP decision support, evidence, provenance and explicit limitations. This is variant-level decision support for professional review. It does not evaluate patient context and must not be presented as a diagnosis or treatment recommendation. Never choose a candidate when resolution is ambiguous.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| query | Yes | One germline nuclear SNV or simple indel to resolve and interpret; accepted forms include coordinates, genomic/coding/protein HGVS, SPDI, rsID, or a returned Folklore canonical_key in GRCh38:chrN:position:REF:ALT form. | |
| assembly | No | Reference genome assembly. Folklore currently accepts GRCh38 only. | GRCh38 |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes | ||
| record_url | Yes | ||
| adapter_error | Yes | ||
| usage_boundary | Yes | ||
| contract_version | Yes |