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MuseTitle97/100
Classify or interpret a germline variant under ACMG/AMP
The title clearly communicates the tool’s action and subject. Keep it concise.
Description97/100
Interpret this variant, explain what this HGVS means, or review this VUS. Use for human genomic variant analysis within bioinformatics workflows, including review of an already identified WGS/WES variant. Use 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. Never invent or swap REF/ALT, guess a transcript accession, or relabel another assembly as GRCh38. For reference_mismatch, ask the user to verify the source assembly, position, reference and accession version; preserve the refusal. A bare protein consequence needs a gene or versioned protein accession. A report row may include matching genomic, coding and protein descriptions with a versioned transcript; submit the complete row without discarding conflicting parts. For not_found, preserve the missing exact mapping rather than back-translating a protein change.
The description explains the capability, when to use it, and what to expect.
Inputs88/100
Remove validation rules already expressed in this field’s schema; describe its meaning and usage instead.
assembly
Reference genome assembly. Folklore currently accepts GRCh38 only.
Remove validation rules already expressed in this field’s schema; describe its meaning and usage instead.
query
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.
Clear enough to supply this argument.
Annotations100/100
All four behavior hints are declared.
{
"title": "Classify or interpret a germline variant under ACMG/AMP",
"readOnlyHint": true,
"openWorldHint": false,
"idempotentHint": true,
"destructiveHint": false
}Output schema26/100
Align the output schema with the tool’s documented result.
View output schema
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