← Back to variant description
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: 9-85586895-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=85586895&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 85586895,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286715.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "NM_001330701.2",
"protein_id": "NP_001317630.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": "ENST00000357081.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330701.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000357081.8",
"protein_id": "ENSP00000349592.3",
"transcript_support_level": 5,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": "NM_001330701.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357081.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "ENST00000376083.7",
"protein_id": "ENSP00000365251.3",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376083.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3125A>G",
"hgvs_p": "p.His1042Arg",
"transcript": "NM_001286715.1",
"protein_id": "NP_001273644.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286715.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3125A>G",
"hgvs_p": "p.His1042Arg",
"transcript": "ENST00000337006.8",
"protein_id": "ENSP00000338512.5",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337006.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.His1036Arg",
"transcript": "ENST00000950851.1",
"protein_id": "ENSP00000620910.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950851.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3005A>G",
"hgvs_p": "p.His1002Arg",
"transcript": "NM_001286717.1",
"protein_id": "NP_001273646.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286717.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.3005A>G",
"hgvs_p": "p.His1002Arg",
"transcript": "ENST00000628899.1",
"protein_id": "ENSP00000487074.1",
"transcript_support_level": 2,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628899.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000901876.1",
"protein_id": "ENSP00000571935.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901876.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000901879.1",
"protein_id": "ENSP00000571938.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3060,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901879.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000901883.1",
"protein_id": "ENSP00000571942.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901883.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000950853.1",
"protein_id": "ENSP00000620912.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950853.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "ENST00000950854.1",
"protein_id": "ENSP00000620913.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3164,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950854.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2963A>G",
"hgvs_p": "p.His988Arg",
"transcript": "ENST00000901875.1",
"protein_id": "ENSP00000571934.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2963,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901875.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "ENST00000901885.1",
"protein_id": "ENSP00000571944.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901885.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "NM_015239.3",
"protein_id": "NP_056054.2",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015239.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "ENST00000901874.1",
"protein_id": "ENSP00000571933.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901874.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "ENST00000901882.1",
"protein_id": "ENSP00000571941.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3222,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901882.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "ENST00000912527.1",
"protein_id": "ENSP00000582586.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912527.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.His946Arg",
"transcript": "ENST00000901880.1",
"protein_id": "ENSP00000571939.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901880.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.His946Arg",
"transcript": "ENST00000912526.1",
"protein_id": "ENSP00000582585.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912526.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2765A>G",
"hgvs_p": "p.His922Arg",
"transcript": "ENST00000912530.1",
"protein_id": "ENSP00000582589.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2765,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912530.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.His906Arg",
"transcript": "ENST00000912529.1",
"protein_id": "ENSP00000582588.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912529.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.His906Arg",
"transcript": "ENST00000950849.1",
"protein_id": "ENSP00000620908.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950849.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2336A>G",
"hgvs_p": "p.His779Arg",
"transcript": "ENST00000912528.1",
"protein_id": "ENSP00000582587.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912528.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.His739Arg",
"transcript": "ENST00000912531.1",
"protein_id": "ENSP00000582590.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 975,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912531.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.His574Arg",
"transcript": "ENST00000901878.1",
"protein_id": "ENSP00000571937.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 810,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901878.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000950850.1",
"protein_id": "ENSP00000620909.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 775,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950850.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.His534Arg",
"transcript": "ENST00000901881.1",
"protein_id": "ENSP00000571940.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 770,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901881.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_005251848.3",
"protein_id": "XP_005251905.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3684,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251848.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423086.1",
"protein_id": "XP_047279042.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5731,
"cdna_end": null,
"cdna_length": 7013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423086.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423087.1",
"protein_id": "XP_047279043.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5659,
"cdna_end": null,
"cdna_length": 6941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423087.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423088.1",
"protein_id": "XP_047279044.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5291,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423088.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423089.1",
"protein_id": "XP_047279045.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5265,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423089.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423090.1",
"protein_id": "XP_047279046.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5097,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423090.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423091.1",
"protein_id": "XP_047279047.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 4122,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423091.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423092.1",
"protein_id": "XP_047279048.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423092.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423093.1",
"protein_id": "XP_047279049.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3976,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423093.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423094.1",
"protein_id": "XP_047279050.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 4892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423094.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423095.1",
"protein_id": "XP_047279051.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 5356,
"cdna_end": null,
"cdna_length": 6638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423095.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "XM_047423096.1",
"protein_id": "XP_047279052.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423096.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "XM_047423097.1",
"protein_id": "XP_047279053.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3262,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423097.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_011518418.3",
"protein_id": "XP_011516720.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518418.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2969A>G",
"hgvs_p": "p.His990Arg",
"transcript": "XM_047423098.1",
"protein_id": "XP_047279054.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 7292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423098.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2849A>G",
"hgvs_p": "p.His950Arg",
"transcript": "XM_017014545.2",
"protein_id": "XP_016870034.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014545.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.His872Arg",
"transcript": "XM_047423099.1",
"protein_id": "XP_047279055.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2615,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423099.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.His832Arg",
"transcript": "XM_047423100.1",
"protein_id": "XP_047279056.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2495,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423100.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.His635Arg",
"transcript": "XM_011518420.3",
"protein_id": "XP_011516722.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 871,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 7021,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518420.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.*49A>G",
"hgvs_p": null,
"transcript": "XM_047423101.1",
"protein_id": "XP_047279057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.2423+9467A>G",
"hgvs_p": null,
"transcript": "ENST00000950852.1",
"protein_id": "ENSP00000620911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": null,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.1303-7799A>G",
"hgvs_p": null,
"transcript": "ENST00000901884.1",
"protein_id": "ENSP00000571943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"hgvs_c": "c.663-39609A>G",
"hgvs_p": null,
"transcript": "ENST00000901877.1",
"protein_id": "ENSP00000571936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901877.1"
}
],
"gene_symbol": "AGTPBP1",
"gene_hgnc_id": 17258,
"dbsnp": "rs1564034077",
"frequency_reference_population": 6.8410964e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8411e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8497796058654785,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.721,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001286715.1",
"gene_symbol": "AGTPBP1",
"hgnc_id": 17258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3125A>G",
"hgvs_p": "p.His1042Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}