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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: 19-49860118-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49860118&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49860118,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000391842.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000391842.6",
"protein_id": "ENSP00000375717.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000599732.5",
"protein_id": "ENSP00000469128.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000601675.5",
"protein_id": "ENSP00000472816.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Gly336Gly",
"transcript": "ENST00000600603.5",
"protein_id": "ENSP00000471458.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 374,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1443,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "n.1455C>G",
"hgvs_p": null,
"transcript": "ENST00000597793.5",
"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": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1219C>G",
"hgvs_p": "p.Arg407Gly",
"transcript": "NM_001364747.2",
"protein_id": "NP_001351676.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 431,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1219C>G",
"hgvs_p": "p.Arg407Gly",
"transcript": "NM_001364749.2",
"protein_id": "NP_001351678.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 431,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "NM_001305105.2",
"protein_id": "NP_001292034.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "NM_001394010.1",
"protein_id": "NP_001380939.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "NM_017432.5",
"protein_id": "NP_059128.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 416,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Arg360Gly",
"transcript": "NM_001364745.2",
"protein_id": "NP_001351674.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 384,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Arg360Gly",
"transcript": "ENST00000601638.5",
"protein_id": "ENSP00000469541.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 384,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.751C>G",
"hgvs_p": "p.Arg251Gly",
"transcript": "NM_001364748.2",
"protein_id": "NP_001351677.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 275,
"cds_start": 751,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.751C>G",
"hgvs_p": "p.Arg251Gly",
"transcript": "NM_001364750.2",
"protein_id": "NP_001351679.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 275,
"cds_start": 751,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Arg87Gly",
"transcript": "ENST00000601093.5",
"protein_id": "ENSP00000469838.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 111,
"cds_start": 259,
"cds_end": null,
"cds_length": 336,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.1008C>G",
"hgvs_p": "p.Gly336Gly",
"transcript": "NM_001305108.2",
"protein_id": "NP_001292037.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 374,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Thr32Thr",
"transcript": "ENST00000636840.1",
"protein_id": "ENSP00000490737.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 37,
"cds_start": 96,
"cds_end": null,
"cds_length": 115,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 117,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "n.312G>C",
"hgvs_p": null,
"transcript": "ENST00000596624.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "n.1192C>G",
"hgvs_p": null,
"transcript": "ENST00000598325.5",
"protein_id": null,
"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": 1438,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "n.*359C>G",
"hgvs_p": null,
"transcript": "ENST00000601612.5",
"protein_id": "ENSP00000470007.1",
"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": 1480,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "n.1249C>G",
"hgvs_p": null,
"transcript": "NR_130963.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1512,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "n.*359C>G",
"hgvs_p": null,
"transcript": "ENST00000601612.5",
"protein_id": "ENSP00000470007.1",
"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": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTOV1",
"gene_hgnc_id": 9632,
"hgvs_c": "c.-21C>G",
"hgvs_p": null,
"transcript": "ENST00000597730.1",
"protein_id": "ENSP00000468905.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
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}
],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34487491846084595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.461,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6175,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.605,
"phylop100way_prediction": "Benign",
"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,
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000391842.6",
"gene_symbol": "PTOV1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg392Gly"
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{
"score": 0,
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"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "PNKP",
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"synonymous_variant"
],
"inheritance_mode": "AR,AD",
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"hgvs_p": "p.Thr32Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}