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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: 17-42316818-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42316818&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42316818,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264657.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "NM_139276.3",
"protein_id": "NP_644805.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000264657.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000264657.10",
"protein_id": "ENSP00000264657.4",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_139276.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000588969.5",
"protein_id": "ENSP00000467985.1",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "ENST00000404395.3",
"protein_id": "ENSP00000384943.3",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 769,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2324G>T",
"hgvs_p": "p.Gly775Val",
"transcript": "ENST00000677421.1",
"protein_id": "ENSP00000503599.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 802,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2243G>T",
"hgvs_p": "p.Gly748Val",
"transcript": "ENST00000678792.1",
"protein_id": "ENSP00000504435.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 775,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2243G>T",
"hgvs_p": "p.Gly748Val",
"transcript": "ENST00000678913.1",
"protein_id": "ENSP00000504609.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 775,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "NM_001369512.1",
"protein_id": "NP_001356441.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "NM_001369513.1",
"protein_id": "NP_001356442.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000678044.1",
"protein_id": "ENSP00000503102.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000678906.1",
"protein_id": "ENSP00000504184.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000678960.1",
"protein_id": "ENSP00000503181.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2494,
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"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val",
"transcript": "ENST00000715205.1",
"protein_id": "ENSP00000520412.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 770,
"cds_start": 2228,
"cds_end": null,
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"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "NM_001369514.1",
"protein_id": "NP_001356443.1",
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"aa_start": 742,
"aa_end": null,
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"cds_start": 2225,
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"cdna_start": 2393,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "NM_001369516.1",
"protein_id": "NP_001356445.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 769,
"cds_start": 2225,
"cds_end": null,
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"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "NM_003150.4",
"protein_id": "NP_003141.2",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "ENST00000677723.1",
"protein_id": "ENSP00000503574.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 769,
"cds_start": 2225,
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"cdna_start": 2425,
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"cdna_length": 4834,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2225G>T",
"hgvs_p": "p.Gly742Val",
"transcript": "ENST00000679014.1",
"protein_id": "ENSP00000503237.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 769,
"cds_start": 2225,
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"cdna_start": 2481,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2216G>T",
"hgvs_p": "p.Gly739Val",
"transcript": "NM_001384993.1",
"protein_id": "NP_001371922.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2213G>T",
"hgvs_p": "p.Gly738Val",
"transcript": "ENST00000677152.1",
"protein_id": "ENSP00000502874.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
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"cds_start": 2213,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2207G>T",
"hgvs_p": "p.Gly736Val",
"transcript": "NM_001384987.1",
"protein_id": "NP_001371916.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 763,
"cds_start": 2207,
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"cdna_start": 2394,
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"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.2207G>T",
"hgvs_p": "p.Gly736Val",
"transcript": "ENST00000678043.1",
"protein_id": "ENSP00000503872.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 763,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
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"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.*9G>T",
"hgvs_p": null,
"transcript": "XM_017024973.3",
"protein_id": "XP_016880462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"dbsnp": "rs151033214",
"frequency_reference_population": 0.0001394249,
"hom_count_reference_population": 0,
"allele_count_reference_population": 225,
"gnomad_exomes_af": 0.000142966,
"gnomad_genomes_af": 0.000105342,
"gnomad_exomes_ac": 209,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19887381792068481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.356,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000264657.10",
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2228G>T",
"hgvs_p": "p.Gly743Val"
}
],
"clinvar_disease": " autosomal dominant,Hyper-IgE recurrent infection syndrome 1,STAT3 gain of function,STAT3-related disorder,STAT3-related early-onset multisystem autoimmune disease,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3",
"phenotype_combined": "Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3-related early-onset multisystem autoimmune disease|not provided|STAT3-related disorder|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}