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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: 17-8466982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8466982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8466982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030808.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "NM_030808.5",
"protein_id": "NP_110435.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334527.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030808.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000334527.12",
"protein_id": "ENSP00000333982.7",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030808.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334527.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000852241.1",
"protein_id": "ENSP00000522300.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 375,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852241.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852238.1",
"protein_id": "ENSP00000522297.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852238.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852239.1",
"protein_id": "ENSP00000522298.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852239.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852243.1",
"protein_id": "ENSP00000522302.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852243.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852244.1",
"protein_id": "ENSP00000522303.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852244.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852246.1",
"protein_id": "ENSP00000522305.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852246.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000852247.1",
"protein_id": "ENSP00000522306.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852247.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000916784.1",
"protein_id": "ENSP00000586843.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916784.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000916785.1",
"protein_id": "ENSP00000586844.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916785.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000953597.1",
"protein_id": "ENSP00000623656.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953597.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000953599.1",
"protein_id": "ENSP00000623658.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953599.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "ENST00000953600.1",
"protein_id": "ENSP00000623659.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953600.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332Cys",
"transcript": "ENST00000953598.1",
"protein_id": "ENSP00000623657.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 344,
"cds_start": 994,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953598.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "ENST00000916783.1",
"protein_id": "ENSP00000586842.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 343,
"cds_start": 991,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916783.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"transcript": "ENST00000852245.1",
"protein_id": "ENSP00000522304.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 306,
"cds_start": 880,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852245.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000852242.1",
"protein_id": "ENSP00000522301.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 287,
"cds_start": 823,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852242.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Cys",
"transcript": "ENST00000852240.1",
"protein_id": "ENSP00000522299.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 244,
"cds_start": 694,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852240.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Cys",
"transcript": "XM_017025184.2",
"protein_id": "XP_016880673.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 358,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025184.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346Cys",
"transcript": "XM_047436860.1",
"protein_id": "XP_047292816.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 358,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436860.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys",
"transcript": "XM_047436861.1",
"protein_id": "XP_047292817.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 997,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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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": "NDEL1",
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"feature": "ENST00000583683.1"
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],
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"dbsnp": "rs1428572494",
"frequency_reference_population": 0.000018469318,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000184693,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6687373518943787,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3488,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.073,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_030808.5",
"gene_symbol": "NDEL1",
"hgnc_id": 17620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Cys"
}
],
"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
}