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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: 14-73961761-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73961761&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73961761,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000334571.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Tyr412Cys",
"transcript": "NM_182476.3",
"protein_id": "NP_872282.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 468,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": "ENST00000334571.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Tyr412Cys",
"transcript": "ENST00000334571.7",
"protein_id": "ENSP00000333946.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 468,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": "NM_182476.3",
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.*840A>G",
"hgvs_p": null,
"transcript": "ENST00000554341.6",
"protein_id": "ENSP00000450736.2",
"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": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.*840A>G",
"hgvs_p": null,
"transcript": "ENST00000554341.6",
"protein_id": "ENSP00000450736.2",
"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": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_182480.3",
"protein_id": "NP_872286.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 443,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "ENST00000394026.8",
"protein_id": "ENSP00000377594.4",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 443,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1127A>G",
"hgvs_p": "p.Tyr376Cys",
"transcript": "NM_001425256.1",
"protein_id": "NP_001412185.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 432,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Tyr357Cys",
"transcript": "NM_001425257.1",
"protein_id": "NP_001412186.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 413,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Tyr351Cys",
"transcript": "NM_001425258.1",
"protein_id": "NP_001412187.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 407,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "NM_001425259.1",
"protein_id": "NP_001412188.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 393,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "NM_001425260.1",
"protein_id": "NP_001412189.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 393,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "ENST00000629426.2",
"protein_id": "ENSP00000486650.1",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 393,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "NM_001425261.1",
"protein_id": "NP_001412190.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 391,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Tyr327Cys",
"transcript": "NM_001425262.1",
"protein_id": "NP_001412191.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 383,
"cds_start": 980,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.908A>G",
"hgvs_p": "p.Tyr303Cys",
"transcript": "NM_001425263.1",
"protein_id": "NP_001412192.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 359,
"cds_start": 908,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"transcript": "NM_001425264.1",
"protein_id": "NP_001412193.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 288,
"cds_start": 695,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"transcript": "NM_001425265.1",
"protein_id": "NP_001412194.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 288,
"cds_start": 695,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1420,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "n.2835A>G",
"hgvs_p": null,
"transcript": "ENST00000556588.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "COQ6",
"gene_hgnc_id": 20233,
"hgvs_c": "c.1210+191A>G",
"hgvs_p": null,
"transcript": "NM_001425255.1",
"protein_id": "NP_001412184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-6174T>C",
"hgvs_p": null,
"transcript": "NM_001382258.1",
"protein_id": "NP_001369187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-2208T>C",
"hgvs_p": null,
"transcript": "NM_001330189.2",
"protein_id": "NP_001317118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-2208T>C",
"hgvs_p": null,
"transcript": "NM_001382259.1",
"protein_id": "NP_001369188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENTPD5",
"gene_hgnc_id": 3367,
"hgvs_c": "c.1201-2208T>C",
"hgvs_p": null,
"transcript": "NM_001382260.1",
"protein_id": "NP_001369189.1",
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"aa_start": null,
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],
"gene_symbol": "COQ6",
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"dbsnp": "rs374270071",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000131428,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9718376398086548,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.9,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.385,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000334571.7",
"gene_symbol": "COQ6",
"hgnc_id": 20233,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Tyr412Cys"
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{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001382258.1",
"gene_symbol": "ENTPD5",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}