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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: 10-35010333-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35010333&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35010333,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003591.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "NM_003591.4",
"protein_id": "NP_003582.2",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "ENST00000374749.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000374749.8",
"protein_id": "ENSP00000363881.3",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "NM_003591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000374751.7",
"protein_id": "ENSP00000363883.3",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2273A>G",
"hgvs_p": "p.Asp758Gly",
"transcript": "NM_001198778.2",
"protein_id": "NP_001185707.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 764,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2273A>G",
"hgvs_p": "p.Asp758Gly",
"transcript": "ENST00000421317.5",
"protein_id": "ENSP00000414095.2",
"transcript_support_level": 2,
"aa_start": 758,
"aa_end": null,
"aa_length": 764,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2255A>G",
"hgvs_p": "p.Asp752Gly",
"transcript": "NM_001198779.1",
"protein_id": "NP_001185708.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 758,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2255A>G",
"hgvs_p": "p.Asp752Gly",
"transcript": "ENST00000537177.6",
"protein_id": "ENSP00000444856.2",
"transcript_support_level": 5,
"aa_start": 752,
"aa_end": null,
"aa_length": 758,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2255A>G",
"hgvs_p": "p.Asp752Gly",
"transcript": "ENST00000688571.1",
"protein_id": "ENSP00000509574.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 758,
"cds_start": 2255,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.Asp747Gly",
"transcript": "ENST00000687524.1",
"protein_id": "ENSP00000510171.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 753,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "NM_001198777.2",
"protein_id": "NP_001185706.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000374748.5",
"protein_id": "ENSP00000363880.1",
"transcript_support_level": 5,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000673636.2",
"protein_id": "ENSP00000501215.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000690393.1",
"protein_id": "ENSP00000510691.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly",
"transcript": "ENST00000691974.1",
"protein_id": "ENSP00000508908.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 745,
"cds_start": 2216,
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"cds_length": 2238,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.Asp736Gly",
"transcript": "ENST00000691263.1",
"protein_id": "ENSP00000510240.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 742,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2129A>G",
"hgvs_p": "p.Asp710Gly",
"transcript": "ENST00000691201.1",
"protein_id": "ENSP00000509778.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 716,
"cds_start": 2129,
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"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.Asp705Gly",
"transcript": "ENST00000690092.1",
"protein_id": "ENSP00000508675.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 711,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Asp700Gly",
"transcript": "ENST00000626172.3",
"protein_id": "ENSP00000485986.1",
"transcript_support_level": 5,
"aa_start": 700,
"aa_end": null,
"aa_length": 706,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Asp688Gly",
"transcript": "ENST00000374746.6",
"protein_id": "ENSP00000363878.2",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 694,
"cds_start": 2063,
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"cds_length": 2085,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "NM_001324375.2",
"protein_id": "NP_001311304.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 682,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000690123.1",
"protein_id": "ENSP00000508924.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 682,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1823A>G",
"hgvs_p": "p.Asp608Gly",
"transcript": "NM_001324376.2",
"protein_id": "NP_001311305.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 614,
"cds_start": 1823,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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},
{
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}
],
"gene_symbol": "CUL2",
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"dbsnp": "rs964032175",
"frequency_reference_population": 6.8568767e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85688e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.804561197757721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.754,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9132,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.009,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003591.4",
"gene_symbol": "CUL2",
"hgnc_id": 2552,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asp739Gly"
},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000775934.1",
"gene_symbol": "ENSG00000301061",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144T>C",
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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
}