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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: 15-49367562-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49367562&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49367562,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152647.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 508,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 508,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_005254213.4",
"protein_id": "XP_005254270.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 533,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_005254214.4",
"protein_id": "XP_005254271.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 533,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_006720423.4",
"protein_id": "XP_006720486.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 533,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_047432220.1",
"protein_id": "XP_047288176.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 533,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1121A>G",
"hgvs_p": "p.Asn374Ser",
"transcript": "XM_005254215.4",
"protein_id": "XP_005254272.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 521,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "XM_005254216.4",
"protein_id": "XP_005254273.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 499,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "XM_047432221.1",
"protein_id": "XP_047288177.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 487,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Asn339Ser",
"transcript": "XM_006720426.3",
"protein_id": "XP_006720489.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 486,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Asn339Ser",
"transcript": "XM_047432222.1",
"protein_id": "XP_047288178.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 486,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.914A>G",
"hgvs_p": "p.Asn305Ser",
"transcript": "XM_017021990.2",
"protein_id": "XP_016877479.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 452,
"cds_start": 914,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Asn303Ser",
"transcript": "XM_047432223.1",
"protein_id": "XP_047288179.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 450,
"cds_start": 908,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_017021994.2",
"protein_id": "XP_016877483.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 419,
"cds_start": 815,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Asn272Ser",
"transcript": "XM_047432224.1",
"protein_id": "XP_047288180.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 419,
"cds_start": 815,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_017021995.2",
"protein_id": "XP_016877484.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 400,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Asn252Ser",
"transcript": "XM_011521320.2",
"protein_id": "XP_011519622.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 399,
"cds_start": 755,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Asn252Ser",
"transcript": "XM_017021996.2",
"protein_id": "XP_016877485.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 399,
"cds_start": 755,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser",
"transcript": "XM_011521321.3",
"protein_id": "XP_011519623.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 392,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Asn240Ser",
"transcript": "XM_011521322.2",
"protein_id": "XP_011519624.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 387,
"cds_start": 719,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*31T>C",
"hgvs_p": null,
"transcript": "ENST00000559580.5",
"protein_id": "ENSP00000453257.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": -4,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*26T>C",
"hgvs_p": null,
"transcript": "ENST00000558399.5",
"protein_id": "ENSP00000453252.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.*31T>C",
"hgvs_p": null,
"transcript": "XM_047432347.1",
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},
{
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{
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},
{
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},
{
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"intron_variant"
],
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"gene_symbol": "FAM227B",
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},
{
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],
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"hgvs_c": "c.1110+3740A>G",
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"transcript": "XM_047432225.1",
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}
],
"gene_symbol": "FAM227B",
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"dbsnp": "rs200556221",
"frequency_reference_population": 0.0000137152665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000137747,
"gnomad_genomes_af": 0.0000131477,
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"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13405287265777588,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0788,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.28,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152647.3",
"gene_symbol": "FAM227B",
"hgnc_id": 26543,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Asn386Ser"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000559580.5",
"gene_symbol": "GALK2",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*31T>C",
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}
],
"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
}