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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: 9-95135354-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95135354&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95135354,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000289081.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "NM_000136.3",
"protein_id": "NP_000127.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "ENST00000289081.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "ENST00000289081.8",
"protein_id": "ENSP00000289081.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "NM_000136.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "ENST00000375305.6",
"protein_id": "ENSP00000364454.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "ENST00000490972.7",
"protein_id": "ENSP00000479931.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 492,
"cds_start": 835,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "NM_001243743.2",
"protein_id": "NP_001230672.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "NM_001243744.2",
"protein_id": "NP_001230673.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 492,
"cds_start": 835,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_011518365.4",
"protein_id": "XP_011516667.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 4177,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_024447451.2",
"protein_id": "XP_024303219.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_047422948.1",
"protein_id": "XP_047278904.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_047422949.1",
"protein_id": "XP_047278905.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 558,
"cds_start": 835,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Ser224Thr",
"transcript": "XM_006717001.4",
"protein_id": "XP_006717064.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 503,
"cds_start": 670,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Ser224Thr",
"transcript": "XM_047422950.1",
"protein_id": "XP_047278906.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 503,
"cds_start": 670,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Ser224Thr",
"transcript": "XM_047422951.1",
"protein_id": "XP_047278907.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 503,
"cds_start": 670,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 874,
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"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Ser224Thr",
"transcript": "XM_047422952.1",
"protein_id": "XP_047278908.1",
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"aa_end": null,
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"cds_start": 670,
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"cdna_start": 1036,
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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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_047422953.1",
"protein_id": "XP_047278909.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 492,
"cds_start": 835,
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"cds_length": 1479,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_047422954.1",
"protein_id": "XP_047278910.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 835,
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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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_006717002.5",
"protein_id": "XP_006717065.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 454,
"cds_start": 835,
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"cdna_start": 1097,
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"cdna_length": 1784,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_011518366.4",
"protein_id": "XP_011516668.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 445,
"cds_start": 835,
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"cdna_start": 1097,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr",
"transcript": "XM_047422955.1",
"protein_id": "XP_047278911.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Ser224Thr",
"transcript": "XM_047422956.1",
"protein_id": "XP_047278912.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 437,
"cds_start": 670,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.379T>A",
"hgvs_p": "p.Ser127Thr",
"transcript": "XM_047422957.1",
"protein_id": "XP_047278913.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 406,
"cds_start": 379,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 2038,
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"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.379T>A",
"hgvs_p": "p.Ser127Thr",
"transcript": "XM_047422958.1",
"protein_id": "XP_047278914.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 406,
"cds_start": 379,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
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}
],
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"dbsnp": "rs757190154",
"frequency_reference_population": 0.0000055764153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478883,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7643957138061523,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.106,
"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": "ENST00000289081.8",
"gene_symbol": "FANCC",
"hgnc_id": 3584,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.835T>A",
"hgvs_p": "p.Ser279Thr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000710812.1",
"gene_symbol": "AOPEP",
"hgnc_id": 1361,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.411-11857A>T",
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}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group C,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Fanconi anemia|not provided|Fanconi anemia complementation group C|Hereditary cancer-predisposing syndrome|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}