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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: 3-149657017-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149657017&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 149657017,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015472.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "NM_015472.6",
"protein_id": "NP_056287.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360632.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015472.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000360632.8",
"protein_id": "ENSP00000353847.3",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015472.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360632.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "NM_001168278.3",
"protein_id": "NP_001161750.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168278.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "NM_001168280.3",
"protein_id": "NP_001161752.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168280.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "NM_001348362.2",
"protein_id": "NP_001335291.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348362.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000465804.5",
"protein_id": "ENSP00000419465.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465804.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000467467.5",
"protein_id": "ENSP00000419234.1",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467467.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884350.1",
"protein_id": "ENSP00000554409.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884350.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884351.1",
"protein_id": "ENSP00000554410.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884351.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884352.1",
"protein_id": "ENSP00000554411.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884352.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884353.1",
"protein_id": "ENSP00000554412.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884353.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884354.1",
"protein_id": "ENSP00000554413.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884354.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884357.1",
"protein_id": "ENSP00000554416.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884357.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951294.1",
"protein_id": "ENSP00000621353.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951294.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951297.1",
"protein_id": "ENSP00000621356.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951297.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951298.1",
"protein_id": "ENSP00000621357.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 400,
"cds_start": 290,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951298.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951295.1",
"protein_id": "ENSP00000621354.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 399,
"cds_start": 290,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951295.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884355.1",
"protein_id": "ENSP00000554414.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 396,
"cds_start": 290,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884355.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951296.1",
"protein_id": "ENSP00000621355.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 394,
"cds_start": 290,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951296.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000884356.1",
"protein_id": "ENSP00000554415.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 374,
"cds_start": 290,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884356.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000951299.1",
"protein_id": "ENSP00000621358.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 354,
"cds_start": 290,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951299.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WWTR1",
"gene_hgnc_id": 24042,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"transcript": "ENST00000479238.1",
"protein_id": "ENSP00000418580.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 188,
"cds_start": 290,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479238.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
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],
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"computational_score_selected": 0.16903024911880493,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015472.6",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000663001.1",
"gene_symbol": "WWTR1-AS1",
"hgnc_id": 41035,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.19C>T",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000781979.1",
"gene_symbol": "ENSG00000301802",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-145G>A",
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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
}