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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: 19-51225373-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51225373&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51225373,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001772.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro",
"transcript": "NM_001772.4",
"protein_id": "NP_001763.3",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 364,
"cds_start": 193,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": "ENST00000262262.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro",
"transcript": "ENST00000262262.5",
"protein_id": "ENSP00000262262.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 364,
"cds_start": 193,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": "NM_001772.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro",
"transcript": "ENST00000391796.7",
"protein_id": "ENSP00000375673.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 310,
"cds_start": 193,
"cds_end": null,
"cds_length": 933,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+218G>C",
"hgvs_p": null,
"transcript": "ENST00000421133.6",
"protein_id": "ENSP00000410126.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+218G>C",
"hgvs_p": null,
"transcript": "ENST00000436584.6",
"protein_id": "ENSP00000403331.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro",
"transcript": "NM_001177608.2",
"protein_id": "NP_001171079.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 310,
"cds_start": 193,
"cds_end": null,
"cds_length": 933,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_011527531.3",
"protein_id": "XP_011525833.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 418,
"cds_start": 355,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_017027508.2",
"protein_id": "XP_016882997.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 418,
"cds_start": 355,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_047439728.1",
"protein_id": "XP_047295684.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 418,
"cds_start": 355,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_047439729.1",
"protein_id": "XP_047295685.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 418,
"cds_start": 355,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_017027509.2",
"protein_id": "XP_016882998.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 402,
"cds_start": 355,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_047439730.1",
"protein_id": "XP_047295686.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 372,
"cds_start": 355,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_047439731.1",
"protein_id": "XP_047295687.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 372,
"cds_start": 355,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro",
"transcript": "XM_011527532.3",
"protein_id": "XP_011525834.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 364,
"cds_start": 193,
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"cdna_start": 1248,
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"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Ala119Pro",
"transcript": "XM_047439732.1",
"protein_id": "XP_047295688.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 347,
"cds_start": 355,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "n.243G>C",
"hgvs_p": null,
"transcript": "ENST00000601785.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "n.1373G>C",
"hgvs_p": null,
"transcript": "XR_007067046.1",
"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": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+218G>C",
"hgvs_p": null,
"transcript": "NM_001082618.2",
"protein_id": "NP_001076087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.244-30713C>G",
"hgvs_p": null,
"transcript": "ENST00000716537.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.244-30713C>G",
"hgvs_p": null,
"transcript": "ENST00000716538.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.246-30713C>G",
"hgvs_p": null,
"transcript": "ENST00000716539.1",
"protein_id": null,
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"aa_start": null,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.232-30713C>G",
"hgvs_p": null,
"transcript": "ENST00000819409.1",
"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": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.254-30713C>G",
"hgvs_p": null,
"transcript": "ENST00000819410.1",
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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"transcript": "XM_017027510.2",
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{
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}
],
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"hom_count_reference_population": 41,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.479,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.535,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001772.4",
"gene_symbol": "CD33",
"hgnc_id": 1659,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.193G>C",
"hgvs_p": "p.Ala65Pro"
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{
"score": -20,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000716537.1",
"gene_symbol": "ENSG00000268595",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.244-30713C>G",
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},
{
"score": -20,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007067309.1",
"gene_symbol": "LOC107985327",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.232-30713C>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}