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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-123624782-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=123624782&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 123624782,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_080928.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "NM_001290258.2",
"protein_id": "NP_001277187.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451215.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290258.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000451215.6",
"protein_id": "ENSP00000416433.1",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290258.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451215.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000447789.5",
"protein_id": "ENSP00000401166.1",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 240,
"cds_start": 665,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447789.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "ENST00000944024.1",
"protein_id": "ENSP00000614083.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 612,
"cds_start": 737,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944024.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "NM_080928.4",
"protein_id": "NP_563616.3",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080928.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000275699.4",
"protein_id": "ENSP00000275699.3",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275699.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000434204.5",
"protein_id": "ENSP00000390963.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434204.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000451558.5",
"protein_id": "ENSP00000397655.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451558.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883309.1",
"protein_id": "ENSP00000553368.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883309.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883310.1",
"protein_id": "ENSP00000553369.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883310.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883312.1",
"protein_id": "ENSP00000553371.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883312.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883314.1",
"protein_id": "ENSP00000553373.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883314.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883315.1",
"protein_id": "ENSP00000553374.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883315.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883317.1",
"protein_id": "ENSP00000553376.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883317.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883319.1",
"protein_id": "ENSP00000553378.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883319.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883320.1",
"protein_id": "ENSP00000553379.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883320.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883321.1",
"protein_id": "ENSP00000553380.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883321.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883324.1",
"protein_id": "ENSP00000553383.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883324.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883325.1",
"protein_id": "ENSP00000553384.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883325.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883326.1",
"protein_id": "ENSP00000553385.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883326.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000883328.1",
"protein_id": "ENSP00000553387.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883328.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg",
"transcript": "ENST00000944011.1",
"protein_id": "ENSP00000614070.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 588,
"cds_start": 665,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15-AS1",
"gene_hgnc_id": 40904,
"hgvs_c": "n.-53T>C",
"hgvs_p": null,
"transcript": "ENST00000429396.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB15-AS1",
"gene_hgnc_id": 40904,
"hgvs_c": "n.-51T>C",
"hgvs_p": null,
"transcript": "ENST00000451016.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451016.2"
}
],
"gene_symbol": "ASB15",
"gene_hgnc_id": 19767,
"dbsnp": "rs748824951",
"frequency_reference_population": 0.000004336884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342057,
"gnomad_genomes_af": 0.0000131304,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6164386868476868,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.538,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.754,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080928.4",
"gene_symbol": "ASB15",
"hgnc_id": 19767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.665A>G",
"hgvs_p": "p.His222Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000440504.5",
"gene_symbol": "ASB15-AS1",
"hgnc_id": 40904,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.62+114T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}