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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: 11-118117402-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118117402&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118117402,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000437212.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Glu",
"transcript": "NM_019894.4",
"protein_id": "NP_063947.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 437,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "ENST00000437212.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Glu",
"transcript": "ENST00000437212.8",
"protein_id": "ENSP00000416037.3",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 437,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "NM_019894.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Gly412Glu",
"transcript": "ENST00000522824.5",
"protein_id": "ENSP00000430547.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 432,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.*93G>A",
"hgvs_p": null,
"transcript": "ENST00000714375.1",
"protein_id": "ENSP00000519642.1",
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000714378.1",
"protein_id": "ENSP00000519645.1",
"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": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.*93G>A",
"hgvs_p": null,
"transcript": "ENST00000714375.1",
"protein_id": "ENSP00000519642.1",
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.*342G>A",
"hgvs_p": null,
"transcript": "ENST00000714378.1",
"protein_id": "ENSP00000519645.1",
"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": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Gly415Glu",
"transcript": "NM_001173551.2",
"protein_id": "NP_001167022.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 435,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 5510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Gly415Glu",
"transcript": "ENST00000534111.5",
"protein_id": "ENSP00000435184.1",
"transcript_support_level": 2,
"aa_start": 415,
"aa_end": null,
"aa_length": 435,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Gly412Glu",
"transcript": "NM_001083947.2",
"protein_id": "NP_001077416.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 432,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Gly392Glu",
"transcript": "NM_001290094.2",
"protein_id": "NP_001277023.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 412,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Gly379Glu",
"transcript": "ENST00000616579.4",
"protein_id": "ENSP00000478147.1",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 399,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Gly377Glu",
"transcript": "NM_001173552.2",
"protein_id": "NP_001167023.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 397,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Gly377Glu",
"transcript": "ENST00000523251.5",
"protein_id": "ENSP00000429209.1",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 397,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1091G>A",
"hgvs_p": "p.Gly364Glu",
"transcript": "ENST00000522151.6",
"protein_id": "ENSP00000428407.2",
"transcript_support_level": 3,
"aa_start": 364,
"aa_end": null,
"aa_length": 384,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "NM_001290096.2",
"protein_id": "NP_001277025.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 290,
"cds_start": 809,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 5431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "ENST00000522307.5",
"protein_id": "ENSP00000428814.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 290,
"cds_start": 809,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Glu",
"transcript": "XM_005271613.5",
"protein_id": "XP_005271670.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 494,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Gly415Glu",
"transcript": "XM_005271614.4",
"protein_id": "XP_005271671.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 492,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Gly412Glu",
"transcript": "XM_011542901.3",
"protein_id": "XP_011541203.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 489,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Gly410Glu",
"transcript": "XM_047427259.1",
"protein_id": "XP_047283215.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 487,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Gly379Glu",
"transcript": "XM_011542902.3",
"protein_id": "XP_011541204.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 456,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Gly377Glu",
"transcript": "XM_005271615.4",
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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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"intron_variant"
],
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"gene_symbol": "TMPRSS4",
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"transcript": "ENST00000524218.1",
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}
],
"gene_symbol": "TMPRSS4",
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"dbsnp": "rs1232636836",
"frequency_reference_population": 0.00000371738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342027,
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"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9907718896865845,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.831,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.95,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000437212.8",
"gene_symbol": "TMPRSS4",
"hgnc_id": 11878,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Glu"
}
],
"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
}