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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: 14-58482672-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58482672&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58482672,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000652326.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "NM_001329943.3",
"protein_id": "NP_001316872.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3104,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "ENST00000652326.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "ENST00000652326.2",
"protein_id": "ENSP00000498929.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3104,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "NM_001329943.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Gly1020Asp",
"transcript": "ENST00000619416.4",
"protein_id": "ENSP00000478083.1",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3059,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 8233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2972G>A",
"hgvs_p": "p.Gly991Asp",
"transcript": "ENST00000423743.7",
"protein_id": "ENSP00000399427.3",
"transcript_support_level": 1,
"aa_start": 991,
"aa_end": null,
"aa_length": 1504,
"cds_start": 2972,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Gly959Asp",
"transcript": "ENST00000261244.9",
"protein_id": "ENSP00000261244.5",
"transcript_support_level": 1,
"aa_start": 959,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2876,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Gly1088Asp",
"transcript": "NM_001244189.2",
"protein_id": "NP_001231118.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1644,
"cds_start": 3263,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 8485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Gly1088Asp",
"transcript": "ENST00000354386.10",
"protein_id": "ENSP00000346359.6",
"transcript_support_level": 2,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1644,
"cds_start": 3263,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "NM_001329944.2",
"protein_id": "NP_001316873.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1591,
"cds_start": 3104,
"cds_end": null,
"cds_length": 4776,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Gly1020Asp",
"transcript": "NM_001244190.2",
"protein_id": "NP_001231119.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3059,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "NM_001329946.2",
"protein_id": "NP_001316875.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3104,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 8492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Gly1008Asp",
"transcript": "ENST00000650904.1",
"protein_id": "ENSP00000498606.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2972G>A",
"hgvs_p": "p.Gly991Asp",
"transcript": "NM_001244192.2",
"protein_id": "NP_001231121.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1504,
"cds_start": 2972,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "NM_001329947.2",
"protein_id": "NP_001316876.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3104,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 8426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Gly959Asp",
"transcript": "NM_014749.5",
"protein_id": "NP_055564.3",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2876,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 3422,
"cdna_end": null,
"cdna_length": 8330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Gly950Asp",
"transcript": "NM_001244191.2",
"protein_id": "NP_001231120.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2849,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Gly950Asp",
"transcript": "NM_001364701.2",
"protein_id": "NP_001351630.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2849,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Gly950Asp",
"transcript": "ENST00000619722.5",
"protein_id": "ENSP00000481936.1",
"transcript_support_level": 2,
"aa_start": 950,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2849,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Gly950Asp",
"transcript": "NM_001329945.2",
"protein_id": "NP_001316874.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1441,
"cds_start": 2849,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 7842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Gly950Asp",
"transcript": "NM_001364700.1",
"protein_id": "NP_001351629.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2849,
"cds_end": null,
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"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 5952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2684G>A",
"hgvs_p": "p.Gly895Asp",
"transcript": "NM_001244193.2",
"protein_id": "NP_001231122.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2684,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Gly403Asp",
"transcript": "ENST00000652414.1",
"protein_id": "ENSP00000498397.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 854,
"cds_start": 1208,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Gly208Asp",
"transcript": "ENST00000651852.1",
"protein_id": "ENSP00000498990.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 764,
"cds_start": 623,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
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{
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},
{
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},
{
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"consequences": [
"3_prime_UTR_variant"
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},
{
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"3_prime_UTR_variant"
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"gene_symbol": "KIAA0586",
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"feature": null
}
],
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"dbsnp": "rs77860620",
"frequency_reference_population": 0.00067796395,
"hom_count_reference_population": 21,
"allele_count_reference_population": 1077,
"gnomad_exomes_af": 0.000682299,
"gnomad_genomes_af": 0.000637068,
"gnomad_exomes_ac": 980,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0039307475090026855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.08,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.289,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2_Supporting",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000652326.2",
"gene_symbol": "KIAA0586",
"hgnc_id": 19960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp"
}
],
"clinvar_disease": "Joubert syndrome 23,KIAA0586-related disorder,Short-rib thoracic dysplasia 14 with polydactyly,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly|not provided|KIAA0586-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}