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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: 2-115689702-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=115689702&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 115689702,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321905.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.457T>C",
"hgvs_p": "p.Tyr153His",
"transcript": "NM_020868.6",
"protein_id": "NP_065919.3",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 796,
"cds_start": 457,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": "ENST00000410059.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020868.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.457T>C",
"hgvs_p": "p.Tyr153His",
"transcript": "ENST00000410059.6",
"protein_id": "ENSP00000386565.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 796,
"cds_start": 457,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": "NM_020868.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410059.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Tyr157His",
"transcript": "ENST00000393147.6",
"protein_id": "ENSP00000376855.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 800,
"cds_start": 469,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393147.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Tyr146His",
"transcript": "ENST00000310323.12",
"protein_id": "ENSP00000309066.8",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 789,
"cds_start": 436,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310323.12"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "NM_001321905.3",
"protein_id": "NP_001308834.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 813,
"cds_start": 508,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 6388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321905.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Tyr157His",
"transcript": "NM_001178034.1",
"protein_id": "NP_001171505.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 800,
"cds_start": 469,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178034.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "NM_001178037.3",
"protein_id": "NP_001171508.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 792,
"cds_start": 445,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178037.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Tyr146His",
"transcript": "NM_001004360.5",
"protein_id": "NP_001004360.3",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 789,
"cds_start": 436,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004360.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Tyr146His",
"transcript": "NM_001321906.2",
"protein_id": "NP_001308835.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 789,
"cds_start": 436,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321906.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.457T>C",
"hgvs_p": "p.Tyr153His",
"transcript": "NM_001321907.3",
"protein_id": "NP_001308836.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 783,
"cds_start": 457,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321907.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001321908.3",
"protein_id": "NP_001308837.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 766,
"cds_start": 367,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321908.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.340T>C",
"hgvs_p": "p.Tyr114His",
"transcript": "NM_001321909.3",
"protein_id": "NP_001308838.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 757,
"cds_start": 340,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321909.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "NM_001178036.3",
"protein_id": "NP_001171507.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 746,
"cds_start": 307,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178036.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "NM_001321910.3",
"protein_id": "NP_001308839.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 746,
"cds_start": 307,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321910.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "NM_001321911.3",
"protein_id": "NP_001308840.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 746,
"cds_start": 307,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321911.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "NM_001399849.1",
"protein_id": "NP_001386778.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 746,
"cds_start": 307,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399849.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "ENST00000409163.5",
"protein_id": "ENSP00000387038.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 746,
"cds_start": 307,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409163.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Tyr69His",
"transcript": "NM_001399851.1",
"protein_id": "NP_001386780.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 712,
"cds_start": 205,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399851.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.307T>C",
"hgvs_p": "p.Tyr103His",
"transcript": "NM_001321912.3",
"protein_id": "NP_001308841.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 681,
"cds_start": 307,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321912.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000393146.6",
"protein_id": "ENSP00000376854.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 257,
"cds_start": 445,
"cds_end": null,
"cds_length": 776,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393146.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.469T>C",
"hgvs_p": "p.Tyr157His",
"transcript": "XM_047445203.1",
"protein_id": "XP_047301159.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 787,
"cds_start": 469,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 6339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445203.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Tyr146His",
"transcript": "XM_047445202.1",
"protein_id": "XP_047301158.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 776,
"cds_start": 436,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1125,
"cdna_end": null,
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{
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{
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{
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"feature": "NM_001321914.2"
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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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{
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],
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},
{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "DPP10",
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"dbsnp": "rs777476010",
"frequency_reference_population": 0.000006344461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
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"gnomad_genomes_af": 0.0000197101,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5179866552352905,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.2994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.632,
"phylop100way_prediction": "Uncertain_significance",
"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_001321905.3",
"gene_symbol": "DPP10",
"hgnc_id": 20823,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His"
}
],
"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
}