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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: 3-128485783-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128485783&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128485783,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032638.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "NM_001145661.2",
"protein_id": "NP_001139133.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000487848.6",
"biotype": "protein_coding",
"feature": "NM_001145661.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "NM_032638.5",
"protein_id": "NP_116027.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341105.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032638.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000341105.7",
"protein_id": "ENSP00000345681.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032638.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341105.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000487848.6",
"protein_id": "ENSP00000417074.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001145661.2",
"biotype": "protein_coding",
"feature": "ENST00000487848.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000430265.6",
"protein_id": "ENSP00000400259.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 466,
"cds_start": 815,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430265.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Gly366Ala",
"transcript": "ENST00000696466.1",
"protein_id": "ENSP00000512647.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 574,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696466.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906584.1",
"protein_id": "ENSP00000576643.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906584.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906585.1",
"protein_id": "ENSP00000576644.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906585.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906587.1",
"protein_id": "ENSP00000576646.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906587.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906588.1",
"protein_id": "ENSP00000576647.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906588.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906589.1",
"protein_id": "ENSP00000576648.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906589.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906590.1",
"protein_id": "ENSP00000576649.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906590.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906591.1",
"protein_id": "ENSP00000576650.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906591.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906592.1",
"protein_id": "ENSP00000576651.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906592.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906593.1",
"protein_id": "ENSP00000576652.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906593.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906594.1",
"protein_id": "ENSP00000576653.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906594.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000937284.1",
"protein_id": "ENSP00000607343.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937284.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000962723.1",
"protein_id": "ENSP00000632782.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962723.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000962724.1",
"protein_id": "ENSP00000632783.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962724.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000962725.1",
"protein_id": "ENSP00000632784.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962725.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000962726.1",
"protein_id": "ENSP00000632785.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 480,
"cds_start": 815,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962726.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906586.1",
"protein_id": "ENSP00000576645.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 479,
"cds_start": 815,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906586.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "NM_001145662.1",
"protein_id": "NP_001139134.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 466,
"cds_start": 815,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145662.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala",
"transcript": "ENST00000906583.1",
"protein_id": "ENSP00000576642.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 466,
"cds_start": 815,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906583.1"
}
],
"gene_symbol": "GATA2",
"gene_hgnc_id": 4171,
"dbsnp": "rs770511115",
"frequency_reference_population": 0.0000018588536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84124e-7,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5020262002944946,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.526,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1026,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.066,
"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_032638.5",
"gene_symbol": "GATA2",
"hgnc_id": 4171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.815G>C",
"hgvs_p": "p.Gly272Ala"
}
],
"clinvar_disease": "Deafness-lymphedema-leukemia syndrome,Monocytopenia with susceptibility to infections",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Monocytopenia with susceptibility to infections;Deafness-lymphedema-leukemia syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}