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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: 2-224770336-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224770336&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224770336,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363762.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6319G>A",
"hgvs_p": "p.Ala2107Thr",
"transcript": "NM_014689.3",
"protein_id": "NP_055504.2",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6319,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258390.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014689.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6319G>A",
"hgvs_p": "p.Ala2107Thr",
"transcript": "ENST00000258390.12",
"protein_id": "ENSP00000258390.7",
"transcript_support_level": 5,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6319,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014689.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258390.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6301G>A",
"hgvs_p": "p.Ala2101Thr",
"transcript": "ENST00000409592.7",
"protein_id": "ENSP00000386694.3",
"transcript_support_level": 1,
"aa_start": 2101,
"aa_end": null,
"aa_length": 2180,
"cds_start": 6301,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409592.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6358G>A",
"hgvs_p": "p.Ala2120Thr",
"transcript": "NM_001363762.1",
"protein_id": "NP_001350691.1",
"transcript_support_level": null,
"aa_start": 2120,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6358,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363762.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6358G>A",
"hgvs_p": "p.Ala2120Thr",
"transcript": "ENST00000645028.1",
"protein_id": "ENSP00000493664.1",
"transcript_support_level": null,
"aa_start": 2120,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6358,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645028.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6301G>A",
"hgvs_p": "p.Ala2101Thr",
"transcript": "NM_001290263.2",
"protein_id": "NP_001277192.1",
"transcript_support_level": null,
"aa_start": 2101,
"aa_end": null,
"aa_length": 2180,
"cds_start": 6301,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290263.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000698072.1",
"protein_id": "ENSP00000513544.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 442,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698072.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6358G>A",
"hgvs_p": "p.Ala2120Thr",
"transcript": "XM_006712617.5",
"protein_id": "XP_006712680.1",
"transcript_support_level": null,
"aa_start": 2120,
"aa_end": null,
"aa_length": 2206,
"cds_start": 6358,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712617.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6331G>A",
"hgvs_p": "p.Ala2111Thr",
"transcript": "XM_017004447.2",
"protein_id": "XP_016859936.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2197,
"cds_start": 6331,
"cds_end": null,
"cds_length": 6594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004447.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6319G>A",
"hgvs_p": "p.Ala2107Thr",
"transcript": "XM_047444918.1",
"protein_id": "XP_047300874.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2193,
"cds_start": 6319,
"cds_end": null,
"cds_length": 6582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444918.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6331G>A",
"hgvs_p": "p.Ala2111Thr",
"transcript": "XM_047444919.1",
"protein_id": "XP_047300875.1",
"transcript_support_level": null,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6331,
"cds_end": null,
"cds_length": 6573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444919.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6301G>A",
"hgvs_p": "p.Ala2101Thr",
"transcript": "XM_047444920.1",
"protein_id": "XP_047300876.1",
"transcript_support_level": null,
"aa_start": 2101,
"aa_end": null,
"aa_length": 2187,
"cds_start": 6301,
"cds_end": null,
"cds_length": 6564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444920.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6292G>A",
"hgvs_p": "p.Ala2098Thr",
"transcript": "XM_047444921.1",
"protein_id": "XP_047300877.1",
"transcript_support_level": null,
"aa_start": 2098,
"aa_end": null,
"aa_length": 2184,
"cds_start": 6292,
"cds_end": null,
"cds_length": 6555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444921.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6292G>A",
"hgvs_p": "p.Ala2098Thr",
"transcript": "XM_047444922.1",
"protein_id": "XP_047300878.1",
"transcript_support_level": null,
"aa_start": 2098,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6292,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444922.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6259G>A",
"hgvs_p": "p.Ala2087Thr",
"transcript": "XM_047444923.1",
"protein_id": "XP_047300879.1",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2173,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444923.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6274G>A",
"hgvs_p": "p.Ala2092Thr",
"transcript": "XM_047444924.1",
"protein_id": "XP_047300880.1",
"transcript_support_level": null,
"aa_start": 2092,
"aa_end": null,
"aa_length": 2171,
"cds_start": 6274,
"cds_end": null,
"cds_length": 6516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444924.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6259G>A",
"hgvs_p": "p.Ala2087Thr",
"transcript": "XM_047444925.1",
"protein_id": "XP_047300881.1",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2166,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444925.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6232G>A",
"hgvs_p": "p.Ala2078Thr",
"transcript": "XM_047444926.1",
"protein_id": "XP_047300882.1",
"transcript_support_level": null,
"aa_start": 2078,
"aa_end": null,
"aa_length": 2164,
"cds_start": 6232,
"cds_end": null,
"cds_length": 6495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444926.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6211G>A",
"hgvs_p": "p.Ala2071Thr",
"transcript": "XM_047444927.1",
"protein_id": "XP_047300883.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2157,
"cds_start": 6211,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444927.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6211G>A",
"hgvs_p": "p.Ala2071Thr",
"transcript": "XM_047444928.1",
"protein_id": "XP_047300884.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2150,
"cds_start": 6211,
"cds_end": null,
"cds_length": 6453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444928.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6172G>A",
"hgvs_p": "p.Ala2058Thr",
"transcript": "XM_047444929.1",
"protein_id": "XP_047300885.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2144,
"cds_start": 6172,
"cds_end": null,
"cds_length": 6435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444929.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.6172G>A",
"hgvs_p": "p.Ala2058Thr",
"transcript": "XM_047444930.1",
"protein_id": "XP_047300886.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2137,
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{
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{
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{
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{
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{
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{
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],
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{
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],
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{
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{
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],
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],
"gene_symbol": "DOCK10",
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"dbsnp": "rs550441284",
"frequency_reference_population": 0.0000037526174,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000207392,
"gnomad_genomes_af": 0.000019692,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13337981700897217,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.122,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_001363762.1",
"gene_symbol": "DOCK10",
"hgnc_id": 23479,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6358G>A",
"hgvs_p": "p.Ala2120Thr"
}
],
"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
}