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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: 9-112234888-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112234888&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112234888,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374257.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "NM_001163788.4",
"protein_id": "NP_001157260.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 524,
"cds_start": 812,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": "ENST00000374257.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "ENST00000374257.6",
"protein_id": "ENSP00000363375.1",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 524,
"cds_start": 812,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 7192,
"mane_select": "NM_001163788.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.914G>C",
"hgvs_p": "p.Gly305Ala",
"transcript": "NM_001244898.1",
"protein_id": "NP_001231827.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 558,
"cds_start": 914,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 7996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.914G>C",
"hgvs_p": "p.Gly305Ala",
"transcript": "ENST00000210227.5",
"protein_id": "ENSP00000210227.5",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 558,
"cds_start": 914,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Gly302Ala",
"transcript": "NM_001163790.2",
"protein_id": "NP_001157262.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 555,
"cds_start": 905,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Gly302Ala",
"transcript": "ENST00000450374.2",
"protein_id": "ENSP00000388024.2",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 555,
"cds_start": 905,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 7041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.896G>C",
"hgvs_p": "p.Gly299Ala",
"transcript": "NM_005156.7",
"protein_id": "NP_005147.3",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 552,
"cds_start": 896,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 7937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.896G>C",
"hgvs_p": "p.Gly299Ala",
"transcript": "ENST00000374255.7",
"protein_id": "ENSP00000363373.2",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 552,
"cds_start": 896,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "NM_001244897.2",
"protein_id": "NP_001231826.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 547,
"cds_start": 812,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "ENST00000850868.1",
"protein_id": "ENSP00000520953.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 524,
"cds_start": 812,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.803G>C",
"hgvs_p": "p.Gly268Ala",
"transcript": "NM_001375918.1",
"protein_id": "NP_001362847.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 521,
"cds_start": 803,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 7183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "ENST00000850866.1",
"protein_id": "ENSP00000520952.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 462,
"cds_start": 812,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Gly204Ala",
"transcript": "NM_001244896.2",
"protein_id": "NP_001231825.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 457,
"cds_start": 611,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Gly204Ala",
"transcript": "ENST00000343327.6",
"protein_id": "ENSP00000340705.2",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 457,
"cds_start": 611,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.596G>C",
"hgvs_p": "p.Gly199Ala",
"transcript": "NM_001375920.1",
"protein_id": "NP_001362849.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 452,
"cds_start": 596,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 7013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.959G>C",
"hgvs_p": "p.Gly320Ala",
"transcript": "XM_047424265.1",
"protein_id": "XP_047280221.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 573,
"cds_start": 959,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 7895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.950G>C",
"hgvs_p": "p.Gly317Ala",
"transcript": "XM_047424266.1",
"protein_id": "XP_047280222.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 570,
"cds_start": 950,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Gly308Ala",
"transcript": "XM_011519265.2",
"protein_id": "XP_011517567.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 561,
"cds_start": 923,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 8005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.914G>C",
"hgvs_p": "p.Gly305Ala",
"transcript": "XM_047424267.1",
"protein_id": "XP_047280223.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 558,
"cds_start": 914,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 8039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Gly302Ala",
"transcript": "XM_047424268.1",
"protein_id": "XP_047280224.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 555,
"cds_start": 905,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Gly301Ala",
"transcript": "XM_047424270.1",
"protein_id": "XP_047280226.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 554,
"cds_start": 902,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 7922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "XM_047424271.1",
"protein_id": "XP_047280227.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 524,
"cds_start": 812,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 8979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala",
"transcript": "XM_047424272.1",
"protein_id": "XP_047280228.1",
"transcript_support_level": null,
"aa_start": 271,
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"cds_start": 812,
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"cds_length": 1575,
"cdna_start": 2046,
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"cdna_length": 8945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
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"hgvs_c": "c.611G>C",
"hgvs_p": "p.Gly204Ala",
"transcript": "XM_047424273.1",
"protein_id": "XP_047280229.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 457,
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"cds_length": 1374,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 8809,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "c.596G>C",
"hgvs_p": "p.Gly199Ala",
"transcript": "XM_047424274.1",
"protein_id": "XP_047280230.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 452,
"cds_start": 596,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 8800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"hgvs_c": "n.693G>C",
"hgvs_p": null,
"transcript": "ENST00000850864.1",
"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": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTBP3",
"gene_hgnc_id": 10253,
"dbsnp": "rs142428067",
"frequency_reference_population": 0.00008872002,
"hom_count_reference_population": 0,
"allele_count_reference_population": 143,
"gnomad_exomes_af": 0.0000938564,
"gnomad_genomes_af": 0.0000394384,
"gnomad_exomes_ac": 137,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20595300197601318,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.2546,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.709,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000374257.6",
"gene_symbol": "PTBP3",
"hgnc_id": 10253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.812G>C",
"hgvs_p": "p.Gly271Ala"
}
],
"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
}