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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: 6-154089975-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154089975&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 154089975,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145279.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "NM_000914.5",
"protein_id": "NP_000905.3",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 400,
"cds_start": 440,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": "ENST00000330432.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000914.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000330432.12",
"protein_id": "ENSP00000328264.7",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 400,
"cds_start": 440,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": "NM_000914.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330432.12"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240Cys",
"transcript": "ENST00000434900.6",
"protein_id": "ENSP00000394624.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 493,
"cds_start": 719,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434900.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.626C>G",
"hgvs_p": "p.Ser209Cys",
"transcript": "ENST00000360422.8",
"protein_id": "ENSP00000353598.5",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 476,
"cds_start": 626,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360422.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000229768.9",
"protein_id": "ENSP00000229768.5",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 446,
"cds_start": 440,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229768.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000419506.6",
"protein_id": "ENSP00000403549.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 420,
"cds_start": 440,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419506.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000337049.8",
"protein_id": "ENSP00000338381.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 418,
"cds_start": 440,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337049.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000452687.6",
"protein_id": "ENSP00000410497.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 406,
"cds_start": 440,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452687.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000414028.6",
"protein_id": "ENSP00000399359.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 403,
"cds_start": 440,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414028.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000435918.6",
"protein_id": "ENSP00000413752.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 397,
"cds_start": 440,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435918.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000428397.6",
"protein_id": "ENSP00000411903.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 392,
"cds_start": 440,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428397.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "ENST00000524163.5",
"protein_id": "ENSP00000430097.1",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 389,
"cds_start": 440,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524163.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ser66Cys",
"transcript": "ENST00000518759.5",
"protein_id": "ENSP00000430260.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 319,
"cds_start": 197,
"cds_end": null,
"cds_length": 960,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518759.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ser47Cys",
"transcript": "ENST00000520708.5",
"protein_id": "ENSP00000430876.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 300,
"cds_start": 140,
"cds_end": null,
"cds_length": 903,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520708.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ser47Cys",
"transcript": "ENST00000522236.1",
"protein_id": "ENSP00000429373.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 300,
"cds_start": 140,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522236.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ser47Cys",
"transcript": "ENST00000522555.5",
"protein_id": "ENSP00000429719.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 300,
"cds_start": 140,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522555.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "n.372C>G",
"hgvs_p": null,
"transcript": "ENST00000519613.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519613.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "n.214C>G",
"hgvs_p": null,
"transcript": "ENST00000522382.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000522382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "n.440C>G",
"hgvs_p": null,
"transcript": "ENST00000522739.5",
"protein_id": "ENSP00000428018.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522739.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240Cys",
"transcript": "NM_001145279.4",
"protein_id": "NP_001138751.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 493,
"cds_start": 719,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 15640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145279.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.719C>G",
"hgvs_p": "p.Ser240Cys",
"transcript": "NM_001285524.1",
"protein_id": "NP_001272453.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 493,
"cds_start": 719,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 15174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285524.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.440C>G",
"hgvs_p": "p.Ser147Cys",
"transcript": "NM_001008505.2",
"protein_id": "NP_001008505.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 446,
"cds_start": 440,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008505.2"
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{
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{
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],
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"hom_count_reference_population": 42,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015153288841247559,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001145279.4",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Ser240Cys"
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{
"score": -10,
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"criteria": [
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"BP6_Moderate",
"BS2"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "",
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}
],
"clinvar_disease": "Tramadol response,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified|Tramadol response",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}