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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: 22-46793667-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46793667&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46793667,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014346.5",
"consequences": [
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "NM_014346.5",
"protein_id": "NP_055161.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 517,
"cds_start": 286,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "ENST00000337137.9",
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "ENST00000337137.9",
"protein_id": "ENSP00000336724.4",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 517,
"cds_start": 286,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "NM_014346.5",
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "ENST00000380995.5",
"protein_id": "ENSP00000370383.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 487,
"cds_start": 196,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 3934,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Glu77Lys",
"transcript": "ENST00000355704.7",
"protein_id": "ENSP00000347932.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 439,
"cds_start": 229,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1886,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Glu66Lys",
"transcript": "NM_001284304.2",
"protein_id": "NP_001271233.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 487,
"cds_start": 196,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3895,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Glu49Lys",
"transcript": "NM_001284305.2",
"protein_id": "NP_001271234.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 470,
"cds_start": 145,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3697,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Glu49Lys",
"transcript": "ENST00000406733.1",
"protein_id": "ENSP00000385634.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 470,
"cds_start": 145,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2267,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "NM_001410803.1",
"protein_id": "NP_001397732.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 458,
"cds_start": 286,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3581,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "ENST00000407381.7",
"protein_id": "ENSP00000384036.3",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 458,
"cds_start": 286,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1949,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Glu77Lys",
"transcript": "NM_001284303.2",
"protein_id": "NP_001271232.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 439,
"cds_start": 229,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 3524,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_047441306.1",
"protein_id": "XP_047297262.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 562,
"cds_start": 286,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 6457,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_017028742.3",
"protein_id": "XP_016884231.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 549,
"cds_start": 286,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3854,
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_017028743.3",
"protein_id": "XP_016884232.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 530,
"cds_start": 286,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 6361,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_047441307.1",
"protein_id": "XP_047297263.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 433,
"cds_start": 286,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1524,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_011530100.4",
"protein_id": "XP_011528402.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 401,
"cds_start": 286,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1434,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_017028746.3",
"protein_id": "XP_016884235.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 388,
"cds_start": 286,
"cds_end": null,
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"cdna_start": 423,
"cdna_end": null,
"cdna_length": 11788,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_011530101.4",
"protein_id": "XP_011528403.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 376,
"cds_start": 286,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1627,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_017028747.3",
"protein_id": "XP_016884236.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 364,
"cds_start": 286,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3665,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_011530102.4",
"protein_id": "XP_011528404.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 362,
"cds_start": 286,
"cds_end": null,
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"cdna_start": 423,
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"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_047441308.1",
"protein_id": "XP_047297264.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 362,
"cds_start": 286,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1272,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_047441309.1",
"protein_id": "XP_047297265.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 303,
"cds_start": 286,
"cds_end": null,
"cds_length": 912,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1095,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.286G>A",
"hgvs_p": null,
"transcript": "ENST00000394449.6",
"protein_id": "ENSP00000377964.2",
"transcript_support_level": 5,
"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": 2048,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.145G>A",
"hgvs_p": null,
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{
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{
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{
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},
{
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"consequences": [
"downstream_gene_variant"
],
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}
],
"gene_symbol": "TBC1D22A",
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"frequency_reference_population": 6.8444115e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84441e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5838081240653992,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.04,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_014346.5",
"gene_symbol": "TBC1D22A",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.286G>A",
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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
}