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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: 9-85547201-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85547201&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 85547201,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286715.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "NM_001330701.2",
"protein_id": "NP_001317630.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357081.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330701.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000357081.8",
"protein_id": "ENSP00000349592.3",
"transcript_support_level": 5,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330701.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357081.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3469A>G",
"hgvs_p": "p.Ile1157Val",
"transcript": "ENST00000376083.7",
"protein_id": "ENSP00000365251.3",
"transcript_support_level": 1,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376083.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3745A>G",
"hgvs_p": "p.Ile1249Val",
"transcript": "NM_001286715.1",
"protein_id": "NP_001273644.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3745,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286715.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3745A>G",
"hgvs_p": "p.Ile1249Val",
"transcript": "ENST00000337006.8",
"protein_id": "ENSP00000338512.5",
"transcript_support_level": 5,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3745,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337006.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3727A>G",
"hgvs_p": "p.Ile1243Val",
"transcript": "ENST00000950851.1",
"protein_id": "ENSP00000620910.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950851.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3625A>G",
"hgvs_p": "p.Ile1209Val",
"transcript": "NM_001286717.1",
"protein_id": "NP_001273646.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286717.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3625A>G",
"hgvs_p": "p.Ile1209Val",
"transcript": "ENST00000628899.1",
"protein_id": "ENSP00000487074.1",
"transcript_support_level": 2,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628899.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000901876.1",
"protein_id": "ENSP00000571935.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901876.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000901879.1",
"protein_id": "ENSP00000571938.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901879.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000901883.1",
"protein_id": "ENSP00000571942.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901883.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000950853.1",
"protein_id": "ENSP00000620912.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950853.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3589A>G",
"hgvs_p": "p.Ile1197Val",
"transcript": "ENST00000950854.1",
"protein_id": "ENSP00000620913.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950854.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3583A>G",
"hgvs_p": "p.Ile1195Val",
"transcript": "ENST00000901875.1",
"protein_id": "ENSP00000571934.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901875.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3499A>G",
"hgvs_p": "p.Ile1167Val",
"transcript": "ENST00000901885.1",
"protein_id": "ENSP00000571944.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901885.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3469A>G",
"hgvs_p": "p.Ile1157Val",
"transcript": "NM_015239.3",
"protein_id": "NP_056054.2",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015239.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3469A>G",
"hgvs_p": "p.Ile1157Val",
"transcript": "ENST00000901874.1",
"protein_id": "ENSP00000571933.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901874.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3469A>G",
"hgvs_p": "p.Ile1157Val",
"transcript": "ENST00000901882.1",
"protein_id": "ENSP00000571941.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901882.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3469A>G",
"hgvs_p": "p.Ile1157Val",
"transcript": "ENST00000912527.1",
"protein_id": "ENSP00000582586.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912527.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3457A>G",
"hgvs_p": "p.Ile1153Val",
"transcript": "ENST00000901880.1",
"protein_id": "ENSP00000571939.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901880.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3457A>G",
"hgvs_p": "p.Ile1153Val",
"transcript": "ENST00000912526.1",
"protein_id": "ENSP00000582585.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912526.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3385A>G",
"hgvs_p": "p.Ile1129Val",
"transcript": "ENST00000912530.1",
"protein_id": "ENSP00000582589.1",
"transcript_support_level": null,
"aa_start": 1129,
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{
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{
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],
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.3115A>G",
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"biotype": "protein_coding",
"feature": "XM_047423100.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 16,
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"gene_symbol": "AGTPBP1",
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"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Ile842Val",
"transcript": "XM_011518420.3",
"protein_id": "XP_011516722.1",
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"cds_end": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_011518420.3"
}
],
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"dbsnp": "rs747824329",
"frequency_reference_population": 0.0000142525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000015053,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016731560230255127,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.503,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001286715.1",
"gene_symbol": "AGTPBP1",
"hgnc_id": 17258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3745A>G",
"hgvs_p": "p.Ile1249Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}