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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: 11-28113453-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=28113453&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 28113453,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001113528.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "NM_001113528.2",
"protein_id": "NP_001107000.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407364.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113528.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000407364.8",
"protein_id": "ENSP00000384369.3",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113528.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407364.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000406787.7",
"protein_id": "ENSP00000385507.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 279,
"cds_start": 119,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406787.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"transcript": "ENST00000437814.1",
"protein_id": "ENSP00000392806.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437814.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000886889.1",
"protein_id": "ENSP00000556948.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886889.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000886890.1",
"protein_id": "ENSP00000556949.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886890.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000886891.1",
"protein_id": "ENSP00000556950.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886891.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000954982.1",
"protein_id": "ENSP00000625041.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 407,
"cds_start": 119,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954982.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000886892.1",
"protein_id": "ENSP00000556951.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 343,
"cds_start": 119,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886892.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "NM_001297775.2",
"protein_id": "NP_001284704.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 279,
"cds_start": 119,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297775.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "NM_152636.3",
"protein_id": "NP_689849.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 273,
"cds_start": 119,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152636.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000303459.10",
"protein_id": "ENSP00000307251.6",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 273,
"cds_start": 119,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303459.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000634721.1",
"protein_id": "ENSP00000489468.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 149,
"cds_start": 119,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634721.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000634762.1",
"protein_id": "ENSP00000489363.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 107,
"cds_start": 119,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634762.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "ENST00000403099.5",
"protein_id": "ENSP00000385860.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 93,
"cds_start": 119,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403099.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "XM_011519940.4",
"protein_id": "XP_011518242.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 234,
"cds_start": 119,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519940.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys",
"transcript": "XM_011519941.3",
"protein_id": "XP_011518243.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 215,
"cds_start": 119,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519941.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"transcript": "ENST00000451385.6",
"protein_id": "ENSP00000396550.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451385.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"transcript": "ENST00000532947.2",
"protein_id": "ENSP00000489497.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532947.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"transcript": "ENST00000634627.1",
"protein_id": "ENSP00000489381.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634627.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"transcript": "ENST00000634973.1",
"protein_id": "ENSP00000489505.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000634973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.437A>G",
"hgvs_p": null,
"transcript": "XR_007062458.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007062458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "n.437A>G",
"hgvs_p": null,
"transcript": "XR_930849.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_930849.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"hgvs_c": "c.-239A>G",
"hgvs_p": null,
"transcript": "XM_047426516.1",
"protein_id": "XP_047282472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426516.1"
}
],
"gene_symbol": "METTL15",
"gene_hgnc_id": 26606,
"dbsnp": "rs374210103",
"frequency_reference_population": 0.0000049634937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000411088,
"gnomad_genomes_af": 0.0000131384,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030286729335784912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.004,
"revel_prediction": "Benign",
"alphamissense_score": 0.0781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.165,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001113528.2",
"gene_symbol": "METTL15",
"hgnc_id": 26606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Tyr40Cys"
}
],
"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
}