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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: 2-189692395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189692395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189692395,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000684021.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "NM_001378068.1",
"protein_id": "NP_001364997.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": "ENST00000684021.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "ENST00000684021.1",
"protein_id": "ENSP00000507233.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": "NM_001378068.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "ENST00000313581.4",
"protein_id": "ENSP00000313513.4",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "NM_144708.3",
"protein_id": "NP_653309.3",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "ENST00000520309.5",
"protein_id": "ENSP00000427882.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510673.3",
"protein_id": "XP_011508975.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1445,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510675.3",
"protein_id": "XP_011508977.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510676.3",
"protein_id": "XP_011508978.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1390,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510677.3",
"protein_id": "XP_011508979.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1372,
"cds_start": 1180,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510679.3",
"protein_id": "XP_011508981.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1302,
"cds_start": 1180,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510680.2",
"protein_id": "XP_011508982.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1180,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510681.2",
"protein_id": "XP_011508983.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1180,
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"cds_length": 3885,
"cdna_start": 1376,
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"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510682.3",
"protein_id": "XP_011508984.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1180,
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"cdna_start": 1376,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_017003413.2",
"protein_id": "XP_016858902.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Glu242Lys",
"transcript": "XM_011510685.3",
"protein_id": "XP_011508987.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1293,
"cds_start": 724,
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"cdna_start": 932,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510686.3",
"protein_id": "XP_011508988.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_011510688.2",
"protein_id": "XP_011508990.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1180,
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"cdna_start": 1376,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_047443451.1",
"protein_id": "XP_047299407.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1180,
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"cdna_start": 1376,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_047443452.1",
"protein_id": "XP_047299408.1",
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},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_047443453.1",
"protein_id": "XP_047299409.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_047443454.1",
"protein_id": "XP_047299410.1",
"transcript_support_level": null,
"aa_start": 394,
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"cds_start": 1180,
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"cdna_start": 1376,
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"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "XM_017003417.2",
"protein_id": "XP_016858906.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 914,
"cds_start": 1180,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
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},
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],
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}
],
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"dbsnp": "rs1462812174",
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.02,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000684021.1",
"gene_symbol": "ANKAR",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}