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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: 1-173946821-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173946821&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173946821,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300850.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "NM_172071.4",
"protein_id": "NP_742068.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367696.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172071.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "ENST00000367696.7",
"protein_id": "ENSP00000356669.2",
"transcript_support_level": 5,
"aa_start": 918,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172071.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367696.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "NM_001300850.1",
"protein_id": "NP_001287779.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300850.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "ENST00000892872.1",
"protein_id": "ENSP00000562931.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892872.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "NM_001300851.1",
"protein_id": "NP_001287780.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300851.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "ENST00000367694.2",
"protein_id": "ENSP00000356667.2",
"transcript_support_level": 2,
"aa_start": 918,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367694.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "NM_001300852.1",
"protein_id": "NP_001287781.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300852.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2471G>T",
"hgvs_p": "p.Gly824Val",
"transcript": "ENST00000957921.1",
"protein_id": "ENSP00000627980.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2471,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957921.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447089.1",
"protein_id": "XP_047303045.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447089.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447090.1",
"protein_id": "XP_047303046.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447090.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447091.1",
"protein_id": "XP_047303047.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447091.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447092.1",
"protein_id": "XP_047303048.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447092.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447093.1",
"protein_id": "XP_047303049.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447093.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447094.1",
"protein_id": "XP_047303050.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447094.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447095.1",
"protein_id": "XP_047303051.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447095.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_005244921.4",
"protein_id": "XP_005244978.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244921.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_047447096.1",
"protein_id": "XP_047303052.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447096.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_047447097.1",
"protein_id": "XP_047303053.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447097.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_047447101.1",
"protein_id": "XP_047303057.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447101.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_047447102.1",
"protein_id": "XP_047303058.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447102.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447103.1",
"protein_id": "XP_047303059.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447103.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447104.1",
"protein_id": "XP_047303060.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447104.1"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val",
"transcript": "XM_047447105.1",
"protein_id": "XP_047303061.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447105.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"hgvs_c": "c.2690G>T",
"hgvs_p": "p.Gly897Val",
"transcript": "XM_047447106.1",
"protein_id": "XP_047303062.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447106.1"
}
],
"gene_symbol": "RC3H1",
"gene_hgnc_id": 29434,
"dbsnp": "rs772315521",
"frequency_reference_population": 0.0000031138213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000275177,
"gnomad_genomes_af": 0.00000657324,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45195749402046204,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.716,
"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_001300850.1",
"gene_symbol": "RC3H1",
"hgnc_id": 29434,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2753G>T",
"hgvs_p": "p.Gly918Val"
}
],
"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
}