Autocomplete-style variant lookup (up to 6 matches) in the EVEE database.

The query must be ONE of these exact types — do NOT combine them or add extra words like "pathogenic":

• A gene name: "BRCA1", "TP53", "FBN1"

• An rsID: "rs1597537935"

• A ClinVar variation ID (numeric): "655979"

Returns at most 6 autocomplete-style matches. Pagination/limit params are ignored by the backend.

WARNING: a gene-name query returns an adjacent-position autocomplete slice of variants in that gene — NOT the top-pathogenicity variants of the gene. Do not infer the gene's pathogenic landscape from these 6 rows. To look up a specific variant, query by rsID or ClinVar variation ID.

Use this as the starting point to find variant IDs for the other tools.

Get comprehensive information about a specific genetic variant.

Returns clinical significance, model-derived scores from EVEE's heads (aligned to AlphaMissense, CADD, REVEL, SIFT, etc.), reference predictor scores from external databases when present, gene constraint (LOEUF), HGVS notation, disease associations, protein domains, and the AI-generated mechanistic interpretation.

If the stored interpretation isn't ready, this tool hits EVEE's on-demand /analysis endpoint once: if generation has already completed, the fresh interpretation is returned inline; otherwise the response carries an interpretation = {status: queued/processing, detail: ...} entry and you should call wait_for_variant_analysis to poll until it finishes.

Args: variant_id: Variant identifier in chr:pos:ref:alt format (e.g. "chr17:43092918:G:A" for BRCA1 ClinVar ID 41812). NOTE: EVEE uses 0-based positions; ClinVar/VCF/HGVS are 1-based. Subtract 1 from ClinVar pos for SNVs; for indels the offset varies — prefer search_variants.

Poll EVEE's on-demand interpretation until it completes or times out.

Use this when get_variant reports interpretation.status as queued or processing. Returns the same curated variant summary as get_variant, plus a wait_status entry with attempts / elapsed_seconds. If the deadline hits before completion, call this tool again to keep polling.

Args: variant_id: Variant identifier in chr:pos:ref:alt format. timeout_seconds: Maximum wall-clock time to wait (clamped to [1, 60]). poll_interval_seconds: Delay between polls (clamped to [0.5, 10]).

Get the top biological annotation disruptions for a variant.

Shows which molecular features are most affected by the variant, ranked by magnitude of change. Each disruption shows what the Evo 2 model predicts for the reference vs. alternate allele across 325 biological annotations spanning protein structure, chromatin state, regulatory elements, splice sites, and more.

This is the key tool for understanding WHY a variant is predicted pathogenic or benign — e.g., a splice-site variant might show large disruptions in splice donor/acceptor annotations, while a missense variant might show disruptions in protein domain and secondary structure annotations.

Categories: amino_acid, atacseq, ccre, chipseq, chromhmm, elm, fstack, protein_feature, interpro, genomic_feature, ptm, region, secondary_structure.

Args: variant_id: Variant identifier in chr:pos:ref:alt format. top_n: Number of top disruptions to return (default 15, max 100). category: Optional category filter — restrict ranking to one category (e.g. to see only splice-related disruptions: category='genomic_feature').

Get detailed annotation probe values for a variant.

Returns the Evo 2 model's predicted annotation values for both the reference and alternate allele across 325 biological annotations. Each annotation shows ref (reference allele prediction), alt (alternate allele prediction), and delta (alt - ref).

Use this for deep analysis when you need the full picture — e.g., all chromatin marks across tissues, all amino acid probabilities, or every protein feature prediction. For a quick ranked view of what's most disrupted, use get_variant_disruptions instead.

Args: variant_id: Variant identifier in chr:pos:ref:alt format. category: Optional filter. One of: amino_acid, atacseq, ccre, chipseq, chromhmm, elm, fstack, protein_feature, interpro, genomic_feature, ptm, region, secondary_structure. Omit to get ALL annotations.

Compare multiple variants side-by-side.

Fetches clinical label, pathogenicity score, gene, HGVS protein, consequence, and the top-1 disruption for each. Use when the user asks to contrast, rank, or compare 2+ variants, instead of looping get_variant.

Args: variant_ids: List of variant IDs in chr:pos:ref:alt format (max 10).