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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: 6-43037866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43037866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43037866,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014780.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "NM_014780.5",
"protein_id": "NP_055595.2",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5157,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "ENST00000265348.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "ENST00000265348.9",
"protein_id": "ENSP00000265348.4",
"transcript_support_level": 1,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5157,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "NM_014780.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"transcript": "NM_001168370.2",
"protein_id": "NP_001161842.2",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"transcript": "NM_001374872.1",
"protein_id": "NP_001361801.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"transcript": "ENST00000674100.1",
"protein_id": "ENSP00000501292.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5345,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"transcript": "ENST00000674134.1",
"protein_id": "ENSP00000501068.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4931G>A",
"hgvs_p": "p.Arg1644Gln",
"transcript": "NM_001374873.1",
"protein_id": "NP_001361802.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1702,
"cds_start": 4931,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 5169,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "ENST00000690231.1",
"protein_id": "ENSP00000508461.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4919,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5119,
"cdna_end": null,
"cdna_length": 5354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4916G>A",
"hgvs_p": "p.Arg1639Gln",
"transcript": "NM_001374874.1",
"protein_id": "NP_001361803.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4916,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 5154,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "ENST00000692002.1",
"protein_id": "ENSP00000508567.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 373,
"cds_start": 944,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5054G>A",
"hgvs_p": "p.Arg1685Gln",
"transcript": "XM_017011533.2",
"protein_id": "XP_016867022.2",
"transcript_support_level": null,
"aa_start": 1685,
"aa_end": null,
"aa_length": 1743,
"cds_start": 5054,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 5452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5042G>A",
"hgvs_p": "p.Arg1681Gln",
"transcript": "XM_017011534.2",
"protein_id": "XP_016867023.2",
"transcript_support_level": null,
"aa_start": 1681,
"aa_end": null,
"aa_length": 1739,
"cds_start": 5042,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5191,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.5027G>A",
"hgvs_p": "p.Arg1676Gln",
"transcript": "XM_011515019.3",
"protein_id": "XP_011513321.2",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1734,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 5176,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4958G>A",
"hgvs_p": "p.Arg1653Gln",
"transcript": "XM_017011535.2",
"protein_id": "XP_016867024.2",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
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"cds_start": 4958,
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"cdna_start": 5107,
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"cdna_length": 5356,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4946G>A",
"hgvs_p": "p.Arg1649Gln",
"transcript": "XM_047419600.1",
"protein_id": "XP_047275556.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4946,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 5095,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4931G>A",
"hgvs_p": "p.Arg1644Gln",
"transcript": "XM_011515020.3",
"protein_id": "XP_011513322.2",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
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"cds_start": 4931,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln",
"transcript": "XM_005249503.4",
"protein_id": "XP_005249560.2",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4919,
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"cdna_start": 5068,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Arg931Gln",
"transcript": "XM_011515021.2",
"protein_id": "XP_011513323.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 989,
"cds_start": 2792,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.2780G>A",
"hgvs_p": "p.Arg927Gln",
"transcript": "XM_047419601.1",
"protein_id": "XP_047275557.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 985,
"cds_start": 2780,
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"cdna_start": 2885,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.3139G>A",
"hgvs_p": null,
"transcript": "ENST00000478630.2",
"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": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.*261G>A",
"hgvs_p": null,
"transcript": "ENST00000673725.1",
"protein_id": "ENSP00000500980.1",
"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": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.*261G>A",
"hgvs_p": null,
"transcript": "ENST00000674112.2",
"protein_id": "ENSP00000501166.2",
"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": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
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},
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},
{
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],
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},
{
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"downstream_gene_variant"
],
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"gene_symbol": "CUL7",
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}
],
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"dbsnp": "rs773657593",
"frequency_reference_population": 0.00003470531,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000335277,
"gnomad_genomes_af": 0.0000460205,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13145169615745544,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.241,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014780.5",
"gene_symbol": "CUL7",
"hgnc_id": 21024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}