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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: 2-130139577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130139577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130139577,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_207310.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"transcript": "NM_001258307.2",
"protein_id": "NP_001245236.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 314,
"cds_start": 923,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409943.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258307.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"transcript": "ENST00000409943.8",
"protein_id": "ENSP00000386294.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 314,
"cds_start": 923,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409943.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "ENST00000860854.1",
"protein_id": "ENSP00000530913.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 384,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860854.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "ENST00000944366.1",
"protein_id": "ENSP00000614425.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 384,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944366.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374His",
"transcript": "NM_207310.4",
"protein_id": "NP_997193.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 380,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207310.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374His",
"transcript": "ENST00000310463.10",
"protein_id": "ENSP00000308873.6",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 380,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310463.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372His",
"transcript": "ENST00000944367.1",
"protein_id": "ENSP00000614426.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 378,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "ENST00000860856.1",
"protein_id": "ENSP00000530915.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 376,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860856.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "ENST00000860857.1",
"protein_id": "ENSP00000530916.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 360,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860857.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000860853.1",
"protein_id": "ENSP00000530912.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 356,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860853.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "ENST00000860855.1",
"protein_id": "ENSP00000530914.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 339,
"cds_start": 998,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860855.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312His",
"transcript": "ENST00000944368.1",
"protein_id": "ENSP00000614427.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 318,
"cds_start": 935,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944368.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "ENST00000860852.1",
"protein_id": "ENSP00000530911.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 297,
"cds_start": 872,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860852.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476His",
"transcript": "XM_011512142.3",
"protein_id": "XP_011510444.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 482,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512142.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420His",
"transcript": "XM_006712833.3",
"protein_id": "XP_006712896.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 426,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712833.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416His",
"transcript": "XM_005263840.3",
"protein_id": "XP_005263897.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 422,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263840.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "XM_006712834.4",
"protein_id": "XP_006712897.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 384,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712834.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "XM_006712835.3",
"protein_id": "XP_006712898.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 360,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712835.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "XM_005263842.3",
"protein_id": "XP_005263899.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 356,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263842.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312His",
"transcript": "XM_006712837.3",
"protein_id": "XP_006712900.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 318,
"cds_start": 935,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712837.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"transcript": "XM_047446278.1",
"protein_id": "XP_047302234.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 863,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446278.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC74B",
"gene_hgnc_id": 25267,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288His",
"transcript": "XM_047446279.1",
"protein_id": "XP_047302235.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 294,
"cds_start": 863,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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},
{
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{
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{
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"feature": "NR_165309.1"
},
{
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"strand": true,
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],
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{
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{
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{
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{
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{
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],
"gene_symbol": "CCDC74B",
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"dbsnp": "rs763710118",
"frequency_reference_population": 0.000018595932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
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"gnomad_genomes_af": 0.0000131363,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6149179935455322,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.1903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.536,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_207310.4",
"gene_symbol": "CCDC74B",
"hgnc_id": 25267,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Arg374His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427638.1",
"gene_symbol": "MED15P9",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*160C>T",
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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
}