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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: 9-95111535-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95111535&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95111535,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000289081.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "NM_000136.3",
"protein_id": "NP_000127.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "ENST00000289081.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "ENST00000289081.8",
"protein_id": "ENSP00000289081.3",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "NM_000136.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "ENST00000375305.6",
"protein_id": "ENSP00000364454.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "ENST00000490972.7",
"protein_id": "ENSP00000479931.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 492,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "NM_001243743.2",
"protein_id": "NP_001230672.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "NM_001243744.2",
"protein_id": "NP_001230673.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 492,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_011518365.4",
"protein_id": "XP_011516667.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_024447451.2",
"protein_id": "XP_024303219.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_047422948.1",
"protein_id": "XP_047278904.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_047422949.1",
"protein_id": "XP_047278905.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 558,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1092C>A",
"hgvs_p": "p.Pro364Pro",
"transcript": "XM_006717001.4",
"protein_id": "XP_006717064.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 503,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1354,
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"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1092C>A",
"hgvs_p": "p.Pro364Pro",
"transcript": "XM_047422950.1",
"protein_id": "XP_047278906.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 503,
"cds_start": 1092,
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"cdna_start": 1238,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1092C>A",
"hgvs_p": "p.Pro364Pro",
"transcript": "XM_047422951.1",
"protein_id": "XP_047278907.1",
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"aa_length": 503,
"cds_start": 1092,
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"cdna_start": 1296,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1092C>A",
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"transcript": "XM_047422952.1",
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},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_047422953.1",
"protein_id": "XP_047278909.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 492,
"cds_start": 1257,
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"cdna_start": 1403,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_047422954.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_006717002.5",
"protein_id": "XP_006717065.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_011518366.4",
"protein_id": "XP_011516668.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
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"cds_start": 1257,
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"mane_select": null,
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},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1257C>A",
"hgvs_p": "p.Pro419Pro",
"transcript": "XM_047422955.1",
"protein_id": "XP_047278911.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.1092C>A",
"hgvs_p": "p.Pro364Pro",
"transcript": "XM_047422956.1",
"protein_id": "XP_047278912.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.801C>A",
"hgvs_p": "p.Pro267Pro",
"transcript": "XM_047422957.1",
"protein_id": "XP_047278913.1",
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"cdna_start": 2460,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.801C>A",
"hgvs_p": "p.Pro267Pro",
"transcript": "XM_047422958.1",
"protein_id": "XP_047278914.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 406,
"cds_start": 801,
"cds_end": null,
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"cdna_start": 1138,
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"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.576C>A",
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}
],
"gene_symbol": "FANCC",
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"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.382,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000289081.8",
"gene_symbol": "FANCC",
"hgnc_id": 3584,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1257C>A",
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},
{
"score": -10,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000710812.1",
"gene_symbol": "AOPEP",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Fanconi anemia,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Hereditary cancer-predisposing syndrome|Fanconi anemia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}