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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: 12-119428756-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119428756&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119428756,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_178499.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_178499.5",
"protein_id": "NP_848594.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 550,
"cds_start": 164,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": "ENST00000327554.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000327554.3",
"protein_id": "ENSP00000333374.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 550,
"cds_start": 164,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": "NM_178499.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "ENST00000546345.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.419-40489C>T",
"hgvs_p": null,
"transcript": "ENST00000509470.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000536742.5",
"protein_id": "ENSP00000445505.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 133,
"cds_start": 164,
"cds_end": null,
"cds_length": 402,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000539847.1",
"protein_id": "ENSP00000443403.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 57,
"cds_start": 164,
"cds_end": null,
"cds_length": 174,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "XM_017018911.3",
"protein_id": "XP_016874400.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 514,
"cds_start": 164,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "XM_017018912.3",
"protein_id": "XP_016874401.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 506,
"cds_start": 164,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "XM_047428445.1",
"protein_id": "XP_047284401.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 421,
"cds_start": 164,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "XM_017018913.3",
"protein_id": "XP_016874402.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 419,
"cds_start": 164,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000535685.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.886-40428C>T",
"hgvs_p": null,
"transcript": "ENST00000535511.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.252-26326C>T",
"hgvs_p": null,
"transcript": "ENST00000537366.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.160-67054C>T",
"hgvs_p": null,
"transcript": "ENST00000665601.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.665-40428C>T",
"hgvs_p": null,
"transcript": "ENST00000815425.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.399-26326C>T",
"hgvs_p": null,
"transcript": "ENST00000815426.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.391-40428C>T",
"hgvs_p": null,
"transcript": "ENST00000815427.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 733,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.271-40489C>T",
"hgvs_p": null,
"transcript": "ENST00000815428.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.160-40428C>T",
"hgvs_p": null,
"transcript": "ENST00000815429.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.238-40428C>T",
"hgvs_p": null,
"transcript": "ENST00000815430.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248636",
"gene_hgnc_id": 58183,
"hgvs_c": "n.466-26326C>T",
"hgvs_p": null,
"transcript": "ENST00000815431.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKAB1-AS1",
"gene_hgnc_id": 58183,
"hgvs_c": "n.886-40489C>T",
"hgvs_p": null,
"transcript": "NR_188489.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKAB1-AS1",
"gene_hgnc_id": 58183,
"hgvs_c": "n.284-26326C>T",
"hgvs_p": null,
"transcript": "NR_188490.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKAB1-AS1",
"gene_hgnc_id": 58183,
"hgvs_c": "n.284-40428C>T",
"hgvs_p": null,
"transcript": "NR_188492.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKAB1-AS1",
"gene_hgnc_id": 58183,
"hgvs_c": "n.284-40489C>T",
"hgvs_p": null,
"transcript": "NR_188494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC60",
"gene_hgnc_id": 28610,
"dbsnp": "rs764208425",
"frequency_reference_population": 0.000027654729,
"hom_count_reference_population": 1,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000264089,
"gnomad_genomes_af": 0.0000394374,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2645983099937439,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.148,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.634,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_178499.5",
"gene_symbol": "CCDC60",
"hgnc_id": 28610,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000509470.2",
"gene_symbol": "ENSG00000248636",
"hgnc_id": 58183,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.419-40489C>T",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NR_188489.1",
"gene_symbol": "PRKAB1-AS1",
"hgnc_id": 58183,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.886-40489C>T",
"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
}