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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: 3-15030397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15030397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15030397,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003298.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "NM_001291694.2",
"protein_id": "NP_001278623.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425241.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291694.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000425241.6",
"protein_id": "ENSP00000388387.1",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001291694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425241.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000323373.10",
"protein_id": "ENSP00000320447.6",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323373.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "NM_003298.5",
"protein_id": "NP_003289.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003298.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000859246.1",
"protein_id": "ENSP00000529305.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859246.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000859250.1",
"protein_id": "ENSP00000529309.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859250.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000859253.1",
"protein_id": "ENSP00000529312.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859253.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000911529.1",
"protein_id": "ENSP00000581588.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911529.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000968198.1",
"protein_id": "ENSP00000638257.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968198.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"transcript": "ENST00000968199.1",
"protein_id": "ENSP00000638258.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 615,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968199.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000393102.7",
"protein_id": "ENSP00000376814.3",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393102.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000859248.1",
"protein_id": "ENSP00000529307.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859248.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000859249.1",
"protein_id": "ENSP00000529308.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859249.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000859251.1",
"protein_id": "ENSP00000529310.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859251.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000859252.1",
"protein_id": "ENSP00000529311.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859252.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000968197.1",
"protein_id": "ENSP00000638256.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968197.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"transcript": "ENST00000968201.1",
"protein_id": "ENSP00000638260.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 596,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968201.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Thr304Ile",
"transcript": "ENST00000859247.1",
"protein_id": "ENSP00000529306.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 548,
"cds_start": 911,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859247.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Ile",
"transcript": "ENST00000968200.1",
"protein_id": "ENSP00000638259.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 529,
"cds_start": 854,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968200.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Thr404Ile",
"transcript": "XM_011534058.4",
"protein_id": "XP_011532360.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 648,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534058.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Thr404Ile",
"transcript": "XM_011534059.3",
"protein_id": "XP_011532361.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 648,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534059.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Thr404Ile",
"transcript": "XM_011534061.4",
"protein_id": "XP_011532363.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 648,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1947,
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{
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{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695380.2"
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],
"gene_symbol": "NR2C2",
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"dbsnp": null,
"frequency_reference_population": 6.855457e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85546e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37110596895217896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1448,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.006,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003298.5",
"gene_symbol": "NR2C2",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Thr371Ile"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695381.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
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}
],
"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
}