regulome_db read
scidex.forge.regulome_db
Query ENCODE RegulomeDB for regulatory annotations at variant positions. For each rsID or chr:position, returns the RegulomeDB score (1a–7), functional category (functional / likely_functional / not_functional), TF ChIP-seq experiments, chromatin accessibility (DNase/ATAC), eQTL gene links, and nearby gene annotation. Bridges variant identification (dbSNP, gnomAD) with mechanistic interpretation of which regulatory elements are disrupted. Up to 20 variants per call, parallelised at 5 concurrent. API: https://regulomedb.org/regulome-search/ — free, no auth required.
Invoke
Calls scidex.tool.invoke on the substrate with
this tool name. Edit the JSON below — it must match the
input schema. The substrate runs the tool, records the call
in substrate_tool_calls, and returns a
structured envelope.
Sign in to invoke this tool. Schema and curl snippet are visible to anyone.
Schemas
Input schema
{
"$defs": {
"RegulomeVariantQuery": {
"additionalProperties": false,
"description": "A single variant to query in RegulomeDB.\n\nProvide either:\n\n* ``rsid`` — dbSNP rsID (e.g. ``rs10748017``)\n* ``chromosome`` + ``position`` — 1-based genomic coordinates",
"properties": {
"rsid": {
"anyOf": [
{
"maxLength": 32,
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "dbSNP rsID (e.g. 'rs10748017'). Mutually exclusive with chromosome/position.",
"title": "Rsid"
},
"chromosome": {
"anyOf": [
{
"maxLength": 10,
"type": "string"
},
{
"type": "null"
}
],
"default": null,
"description": "Chromosome designator (e.g. '1', 'X', 'MT'). Use with position; mutually exclusive with rsid.",
"title": "Chromosome"
},
"position": {
"anyOf": [
{
"minimum": 1,
"type": "integer"
},
{
"type": "null"
}
],
"default": null,
"description": "1-based genomic position. Use with chromosome; mutually exclusive with rsid.",
"title": "Position"
}
},
"title": "RegulomeVariantQuery",
"type": "object"
}
},
"additionalProperties": false,
"description": "Input schema for ``scidex.forge.regulome_db``.",
"properties": {
"variants": {
"description": "Variant queries to annotate (1–20). Each must have either ``rsid`` or ``chromosome`` + ``position``.",
"items": {
"$ref": "#/$defs/RegulomeVariantQuery"
},
"title": "Variants",
"type": "array"
},
"genome": {
"default": "GRCh38",
"description": "Reference genome assembly: 'GRCh38' (default) or 'GRCh37'.",
"title": "Genome",
"type": "string"
}
},
"required": [
"variants"
],
"title": "ForgeRegulomeDBIn",
"type": "object"
}Output schema
{
"$defs": {
"RegulomeResult": {
"description": "Regulatory annotation for one variant from RegulomeDB.",
"properties": {
"query": {
"description": "Input variant identifier (rsID or chr:pos) that produced this result.",
"title": "Query",
"type": "string"
},
"rsids": {
"description": "dbSNP rsIDs overlapping this variant position.",
"items": {
"type": "string"
},
"title": "Rsids",
"type": "array"
},
"chromosome": {
"default": "",
"description": "Chromosome designator without 'chr' prefix (e.g. '1', 'X').",
"title": "Chromosome",
"type": "string"
},
"position": {
"default": 0,
"description": "1-based genomic position.",
"title": "Position",
"type": "integer"
},
"regulome_score": {
"default": "0",
"description": "RegulomeDB score string (e.g. '1a', '2b', '6'). '0' means no regulatory evidence found.",
"title": "Regulome Score",
"type": "string"
},
"score_category": {
"default": "not_functional",
"description": "Functional category derived from the RegulomeDB score: 'functional' (1a-1f), 'likely_functional' (2a-2c, 3a-3b, 4), or 'not_functional' (5-7, 0).",
"title": "Score Category",
"type": "string"
},
"tf_binding_experiments": {
"description": "TF ChIP-seq experiments overlapping the variant, formatted as 'TARGET in BIOSAMPLE' (e.g. 'CTCF in K562').",
"items": {
"type": "string"
},
"title": "Tf Binding Experiments",
"type": "array"
},
"chromatin_accessible": {
"default": false,
"description": "True if a DNase-seq or ATAC-seq peak covers this variant position.",
"title": "Chromatin Accessible",
"type": "boolean"
},
"eqtl_genes": {
"description": "Gene symbols with an eQTL association at this variant locus.",
"items": {
"type": "string"
},
"title": "Eqtl Genes",
"type": "array"
},
"nearby_genes": {
"description": "Gene symbols in the ENCODE genomic vicinity annotation.",
"items": {
"type": "string"
},
"title": "Nearby Genes",
"type": "array"
},
"regulomedb_url": {
"description": "Direct URL to the RegulomeDB search page for this variant.",
"title": "Regulomedb Url",
"type": "string"
}
},
"required": [
"query",
"regulomedb_url"
],
"title": "RegulomeResult",
"type": "object"
}
},
"description": "Response shape for ``scidex.forge.regulome_db``.",
"properties": {
"results": {
"description": "Regulatory annotation results, one per found variant.",
"items": {
"$ref": "#/$defs/RegulomeResult"
},
"title": "Results",
"type": "array"
},
"not_found": {
"description": "Query labels for variants with no data in RegulomeDB (e.g. unknown rsIDs or positions with no regulatory evidence).",
"items": {
"type": "string"
},
"title": "Not Found",
"type": "array"
},
"took_ms": {
"description": "Wall-clock time for all upstream API calls.",
"title": "Took Ms",
"type": "integer"
}
},
"required": [
"took_ms"
],
"title": "ForgeRegulomeDBOut",
"type": "object"
}curl snippet
Replace $SCIDEX_JWT with a valid bearer token. Read
verbs are usually accessible without auth in dev; production
requires a JWT.
curl -sS -X POST '/api/scidex/forge/regulome_db' \
-H 'authorization: Bearer $SCIDEX_JWT' \
-H 'content-type: application/json' \
-d '{
"variants": []
}'Discussion
No comments yet — be the first.