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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: 16-85920201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85920201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85920201,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363907.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_002163.4",
"protein_id": "NP_002154.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268638.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002163.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000268638.10",
"protein_id": "ENSP00000268638.4",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002163.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268638.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001363907.1",
"protein_id": "NP_001350836.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 436,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363907.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000564803.6",
"protein_id": "ENSP00000456992.2",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000564803.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000696887.1",
"protein_id": "ENSP00000512953.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000696887.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000859221.1",
"protein_id": "ENSP00000529280.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000859221.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000859222.1",
"protein_id": "ENSP00000529281.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000859222.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000955395.1",
"protein_id": "ENSP00000625454.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000955395.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000955396.1",
"protein_id": "ENSP00000625455.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000955396.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "ENST00000955398.1",
"protein_id": "ENSP00000625457.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 426,
"cds_start": 1081,
"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": "ENST00000955398.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Cys",
"transcript": "ENST00000859220.1",
"protein_id": "ENSP00000529279.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 297,
"cds_start": 694,
"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": "ENST00000859220.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "NM_001363908.1",
"protein_id": "NP_001350837.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 222,
"cds_start": 469,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363908.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "ENST00000562492.5",
"protein_id": "ENSP00000455452.1",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 222,
"cds_start": 469,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562492.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "ENST00000569607.2",
"protein_id": "ENSP00000456395.2",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 222,
"cds_start": 469,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569607.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "XM_047434052.1",
"protein_id": "XP_047290008.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 436,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434052.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.540C>T",
"hgvs_p": "p.Cys180Cys",
"transcript": "ENST00000566369.2",
"protein_id": "ENSP00000455048.2",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 209,
"cds_start": 540,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566369.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.448-905C>T",
"hgvs_p": null,
"transcript": "ENST00000955397.1",
"protein_id": "ENSP00000625456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.175-905C>T",
"hgvs_p": null,
"transcript": "ENST00000955394.1",
"protein_id": "ENSP00000625453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*513C>T",
"hgvs_p": null,
"transcript": "ENST00000696884.1",
"protein_id": "ENSP00000512951.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*1559C>T",
"hgvs_p": null,
"transcript": "ENST00000696885.1",
"protein_id": "ENSP00000512952.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.3218C>T",
"hgvs_p": null,
"transcript": "ENST00000696886.1",
"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": "retained_intron",
"feature": "ENST00000696886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.1028C>T",
"hgvs_p": null,
"transcript": "ENST00000696890.1",
"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": "ENST00000696890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*513C>T",
"hgvs_p": null,
"transcript": "ENST00000696884.1",
"protein_id": "ENSP00000512951.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*1559C>T",
"hgvs_p": null,
"transcript": "ENST00000696885.1",
"protein_id": "ENSP00000512952.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696885.1"
}
],
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"dbsnp": "rs771773479",
"frequency_reference_population": 0.000007099183,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000571256,
"gnomad_genomes_af": 0.0000201272,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8315901756286621,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.744,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.448,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363907.1",
"gene_symbol": "IRF8",
"hgnc_id": 5358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys"
}
],
"clinvar_disease": "Immunodeficiency 32B,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Immunodeficiency 32B;Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}