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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: 9-95150086-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95150086&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95150086,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000289081.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "NM_000136.3",
"protein_id": "NP_000127.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "ENST00000289081.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "ENST00000289081.8",
"protein_id": "ENSP00000289081.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": "NM_000136.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "ENST00000375305.6",
"protein_id": "ENSP00000364454.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "ENST00000490972.7",
"protein_id": "ENSP00000479931.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "NM_001243743.2",
"protein_id": "NP_001230672.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "NM_001243744.2",
"protein_id": "NP_001230673.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_011518365.4",
"protein_id": "XP_011516667.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_024447451.2",
"protein_id": "XP_024303219.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422948.1",
"protein_id": "XP_047278904.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422949.1",
"protein_id": "XP_047278905.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 558,
"cds_start": 523,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422953.1",
"protein_id": "XP_047278909.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422954.1",
"protein_id": "XP_047278910.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 492,
"cds_start": 523,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_006717002.5",
"protein_id": "XP_006717065.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 454,
"cds_start": 523,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_011518366.4",
"protein_id": "XP_011516668.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 445,
"cds_start": 523,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422955.1",
"protein_id": "XP_047278911.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 445,
"cds_start": 523,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Met23Val",
"transcript": "XM_047422957.1",
"protein_id": "XP_047278913.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 406,
"cds_start": 67,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Met23Val",
"transcript": "XM_047422958.1",
"protein_id": "XP_047278914.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 406,
"cds_start": 67,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_006717004.4",
"protein_id": "XP_006717067.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 342,
"cds_start": 523,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 785,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val",
"transcript": "XM_047422959.1",
"protein_id": "XP_047278915.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 342,
"cds_start": 523,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "n.581A>G",
"hgvs_p": null,
"transcript": "ENST00000636777.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 652,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000649334.1",
"protein_id": "ENSP00000497735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCC",
"gene_hgnc_id": 3584,
"hgvs_c": "n.238A>G",
"hgvs_p": null,
"transcript": "ENST00000649701.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
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{
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{
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},
{
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}
],
"gene_symbol": "FANCC",
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"dbsnp": "rs876661083",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"gnomad_exomes_ac": 5,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26974743604660034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.146,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.937,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000665689206433913,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000289081.8",
"gene_symbol": "FANCC",
"hgnc_id": 3584,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Met175Val"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000710812.1",
"gene_symbol": "AOPEP",
"hgnc_id": 1361,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.3286T>C",
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}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group C,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Fanconi anemia|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group C",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}