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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: 3-114339346-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=114339346&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 114339346,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000675478.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "NM_001348800.3",
"protein_id": "NP_001335729.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 27503,
"mane_select": "ENST00000675478.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "ENST00000675478.1",
"protein_id": "ENSP00000501561.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 27503,
"mane_select": "NM_001348800.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "ENST00000474710.6",
"protein_id": "ENSP00000419153.1",
"transcript_support_level": 1,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "ENST00000357258.8",
"protein_id": "ENSP00000349803.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 27125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "ENST00000462705.5",
"protein_id": "ENSP00000420324.1",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "ENST00000464560.5",
"protein_id": "ENSP00000417307.1",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "ENST00000471418.5",
"protein_id": "ENSP00000419902.1",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "ENST00000481632.5",
"protein_id": "ENSP00000418092.1",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "NM_001164342.2",
"protein_id": "NP_001157814.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 26911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "NM_001348803.3",
"protein_id": "NP_001335732.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 27626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "NM_001393393.1",
"protein_id": "NP_001380322.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 27192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "NM_001393394.1",
"protein_id": "NP_001380323.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
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"cdna_start": 2412,
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"cdna_length": 27258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "ENST00000676079.1",
"protein_id": "ENSP00000502480.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 741,
"cds_start": 1885,
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"cdna_start": 2327,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1885A>G",
"hgvs_p": "p.Thr629Ala",
"transcript": "ENST00000704358.1",
"protein_id": "ENSP00000515869.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001164343.2",
"protein_id": "NP_001157815.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
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"cdna_start": 2527,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001164344.4",
"protein_id": "NP_001157816.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001164345.4",
"protein_id": "NP_001157817.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
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"cdna_start": 2275,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001164346.2",
"protein_id": "NP_001157818.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
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"cdna_start": 2084,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001164347.2",
"protein_id": "NP_001157819.1",
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"aa_start": 556,
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001348801.3",
"protein_id": "NP_001335730.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001348802.3",
"protein_id": "NP_001335731.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
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"cdna_start": 2392,
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"cdna_length": 27238,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Thr556Ala",
"transcript": "NM_001348804.3",
"protein_id": "NP_001335733.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 668,
"cds_start": 1666,
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"cds_length": 2007,
"cdna_start": 2361,
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"cdna_length": 27207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
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}
],
"gene_symbol": "ZBTB20",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"computational_score_selected": 0.7397077083587646,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_score": 8,
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"acmg_by_gene": [
{
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"PM2",
"PM5",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}