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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: 5-151033676-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151033676&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151033676,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006058.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_006058.5",
"protein_id": "NP_006049.3",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": "ENST00000521591.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000521591.6",
"protein_id": "ENSP00000430760.1",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": "NM_006058.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000315050.11",
"protein_id": "ENSP00000317891.7",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000518977.5",
"protein_id": "ENSP00000430971.1",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 635,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000523338.5",
"protein_id": "ENSP00000428243.1",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 635,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "ENST00000520931.5",
"protein_id": "ENSP00000429891.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 583,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1588-1293C>T",
"hgvs_p": null,
"transcript": "ENST00000523200.5",
"protein_id": "ENSP00000431105.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1587+1326C>T",
"hgvs_p": null,
"transcript": "ENST00000524280.5",
"protein_id": "ENSP00000429912.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1716,
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "n.1429-97C>T",
"hgvs_p": null,
"transcript": "ENST00000519339.5",
"protein_id": "ENSP00000427854.1",
"transcript_support_level": 1,
"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": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001437741.1",
"protein_id": "NP_001424670.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 649,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001252390.2",
"protein_id": "NP_001239319.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001252391.2",
"protein_id": "NP_001239320.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001258454.2",
"protein_id": "NP_001245383.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001437734.1",
"protein_id": "NP_001424663.1",
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"aa_start": 571,
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"cdna_start": 1825,
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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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001437742.1",
"protein_id": "NP_001424671.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000520695.6",
"protein_id": "ENSP00000430279.2",
"transcript_support_level": 4,
"aa_start": 571,
"aa_end": null,
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"cds_start": 1711,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000521001.2",
"protein_id": "ENSP00000428404.2",
"transcript_support_level": 4,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1887,
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"cdna_length": 2308,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "ENST00000522226.5",
"protein_id": "ENSP00000428187.1",
"transcript_support_level": 2,
"aa_start": 571,
"aa_end": null,
"aa_length": 636,
"cds_start": 1711,
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"cds_length": 1911,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001252392.2",
"protein_id": "NP_001239321.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
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},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001252393.2",
"protein_id": "NP_001239322.1",
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"aa_start": 571,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001437743.1",
"protein_id": "NP_001424672.1",
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"aa_start": 571,
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"aa_length": 629,
"cds_start": 1711,
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"cdna_start": 1902,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
"transcript": "NM_001252385.2",
"protein_id": "NP_001239314.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 619,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys",
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},
{
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],
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"gene_symbol": "TNIP1",
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"transcript": "XM_006714752.4",
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}
],
"gene_symbol": "TNIP1",
"gene_hgnc_id": 16903,
"dbsnp": "rs139724991",
"frequency_reference_population": 0.000014071927,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000751162,
"gnomad_genomes_af": 0.0000657626,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4913937449455261,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.64,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006058.5",
"gene_symbol": "TNIP1",
"hgnc_id": 16903,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571Cys"
}
],
"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
}