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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: 12-120224174-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120224174&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120224174,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000637617.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "ENST00000458477.6",
"protein_id": "ENSP00000395536.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001385981.1",
"protein_id": "NP_001372910.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1081,
"cds_start": 217,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "ENST00000637617.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "ENST00000637617.2",
"protein_id": "ENSP00000489840.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 1081,
"cds_start": 217,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "NM_001385981.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "ENST00000228307.11",
"protein_id": "ENSP00000228307.7",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 591,
"cds_start": 217,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "ENST00000424649.6",
"protein_id": "ENSP00000391283.2",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 557,
"cds_start": 217,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 3683,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "n.204A>T",
"hgvs_p": null,
"transcript": "ENST00000538144.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "ENST00000458477.6",
"protein_id": "ENSP00000395536.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "NM_025157.5",
"protein_id": "NP_079433.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "ENST00000546532.5",
"protein_id": "ENSP00000447180.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "ENST00000548912.5",
"protein_id": "ENSP00000446607.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 35,
"cds_start": -4,
"cds_end": null,
"cds_length": 108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "ENST00000552550.5",
"protein_id": "ENSP00000446650.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 94,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_011538622.2",
"protein_id": "XP_011536924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
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"cdna_length": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_017019732.3",
"protein_id": "XP_016875221.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
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"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_047429237.1",
"protein_id": "XP_047285193.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_047429238.1",
"protein_id": "XP_047285194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
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"cds_length": 2262,
"cdna_start": null,
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"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_047429251.1",
"protein_id": "XP_047285207.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_047429252.1",
"protein_id": "XP_047285208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3753,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-183A>T",
"hgvs_p": null,
"transcript": "XM_047429253.1",
"protein_id": "XP_047285209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
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"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001385982.1",
"protein_id": "NP_001372911.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 989,
"cds_start": 217,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001385983.1",
"protein_id": "NP_001372912.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 987,
"cds_start": 217,
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"cdna_start": 318,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001385984.1",
"protein_id": "NP_001372913.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 900,
"cds_start": 217,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys",
"transcript": "NM_001385985.1",
"protein_id": "NP_001372914.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 852,
"cds_start": 217,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
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"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09579864144325256,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.078,
"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": "ENST00000637617.2",
"gene_symbol": "PXN",
"hgnc_id": 9718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.217A>T",
"hgvs_p": "p.Ser73Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063486.1",
"gene_symbol": "LOC124903034",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3695T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}