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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: 11-64727344-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64727344&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64727344,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001440703.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1788G>A",
"hgvs_p": "p.Glu596Glu",
"transcript": "NM_001098671.2",
"protein_id": "NP_001092141.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 609,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394432.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098671.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1788G>A",
"hgvs_p": "p.Glu596Glu",
"transcript": "ENST00000394432.8",
"protein_id": "ENSP00000377953.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 609,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098671.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394432.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1788G>A",
"hgvs_p": "p.Glu596Glu",
"transcript": "ENST00000354024.7",
"protein_id": "ENSP00000338864.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 609,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354024.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1788G>A",
"hgvs_p": "p.Glu596Glu",
"transcript": "ENST00000377497.7",
"protein_id": "ENSP00000366717.3",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 609,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377497.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1878G>A",
"hgvs_p": "p.Glu626Glu",
"transcript": "NM_001440703.1",
"protein_id": "NP_001427632.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 639,
"cds_start": 1878,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440703.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1875G>A",
"hgvs_p": "p.Glu625Glu",
"transcript": "NM_001440704.1",
"protein_id": "NP_001427633.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 638,
"cds_start": 1875,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440704.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1875G>A",
"hgvs_p": "p.Glu625Glu",
"transcript": "ENST00000892275.1",
"protein_id": "ENSP00000562334.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 638,
"cds_start": 1875,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892275.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1875G>A",
"hgvs_p": "p.Glu625Glu",
"transcript": "ENST00000892282.1",
"protein_id": "ENSP00000562341.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 638,
"cds_start": 1875,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892282.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Glu624Glu",
"transcript": "NM_001440705.1",
"protein_id": "NP_001427634.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 637,
"cds_start": 1872,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440705.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Glu606Glu",
"transcript": "ENST00000956340.1",
"protein_id": "ENSP00000626399.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 619,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956340.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Glu602Glu",
"transcript": "ENST00000892276.1",
"protein_id": "ENSP00000562335.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 615,
"cds_start": 1806,
"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": "ENST00000892276.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Glu602Glu",
"transcript": "ENST00000892285.1",
"protein_id": "ENSP00000562344.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 615,
"cds_start": 1806,
"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": "ENST00000892285.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "NM_001440690.1",
"protein_id": "NP_001427619.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440690.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "NM_001440691.1",
"protein_id": "NP_001427620.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440691.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "NM_001440692.1",
"protein_id": "NP_001427621.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440692.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "NM_001440693.1",
"protein_id": "NP_001427622.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440693.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000377494.5",
"protein_id": "ENSP00000366714.1",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377494.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000892271.1",
"protein_id": "ENSP00000562330.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892271.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000892272.1",
"protein_id": "ENSP00000562331.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892272.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000892273.1",
"protein_id": "ENSP00000562332.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892273.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000892280.1",
"protein_id": "ENSP00000562339.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892280.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP2",
"gene_hgnc_id": 9879,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Glu597Glu",
"transcript": "ENST00000956339.1",
"protein_id": "ENSP00000626398.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 610,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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{
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{
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{
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{
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{
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{
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],
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],
"gene_symbol": "RASGRP2",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.351,
"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,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001440703.1",
"gene_symbol": "RASGRP2",
"hgnc_id": 9879,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}