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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: 2-219501527-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219501527&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219501527,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000313597.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_013335.4",
"protein_id": "NP_037467.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "ENST00000313597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000313597.10",
"protein_id": "ENSP00000315925.6",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "NM_013335.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000358215.8",
"protein_id": "ENSP00000350949.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001438893.1",
"protein_id": "NP_001425822.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 473,
"cds_start": 190,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001438894.1",
"protein_id": "NP_001425823.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 473,
"cds_start": 190,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001438895.1",
"protein_id": "NP_001425824.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 473,
"cds_start": 190,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000373917.7",
"protein_id": "ENSP00000363027.3",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 473,
"cds_start": 190,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001374294.1",
"protein_id": "NP_001361223.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001374295.1",
"protein_id": "NP_001361224.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_205847.3",
"protein_id": "NP_995319.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000341142.8",
"protein_id": "ENSP00000340760.3",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000373908.5",
"protein_id": "ENSP00000363016.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000622191.2",
"protein_id": "ENSP00000478700.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 420,
"cds_start": 190,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000435316.6",
"protein_id": "ENSP00000411060.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 248,
"cds_start": 85,
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"cdna_start": 141,
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"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Pro29Ser",
"transcript": "ENST00000684669.1",
"protein_id": "ENSP00000507011.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 127,
"cds_start": 85,
"cds_end": null,
"cds_length": 384,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444023.1",
"protein_id": "XP_047299979.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 478,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 258,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444024.1",
"protein_id": "XP_047299980.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 478,
"cds_start": 190,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444025.1",
"protein_id": "XP_047299981.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 478,
"cds_start": 190,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444026.1",
"protein_id": "XP_047299982.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 478,
"cds_start": 190,
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"cdna_start": 574,
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"cdna_length": 2012,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444030.1",
"protein_id": "XP_047299986.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 425,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444032.1",
"protein_id": "XP_047299988.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 295,
"cds_start": 190,
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"cdna_start": 258,
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"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047444033.1",
"protein_id": "XP_047299989.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 263,
"cds_start": 190,
"cds_end": null,
"cds_length": 792,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000443704.5",
"protein_id": "ENSP00000396750.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"computational_score_selected": 0.0066054463386535645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.887,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000313597.10",
"gene_symbol": "GMPPA",
"hgnc_id": 22923,
"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Pro64Ser"
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{
"score": -16,
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"verdict": "Benign",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " achalasia, and intellectual disability syndrome,Alacrima,GMPPA-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not specified|Alacrima, achalasia, and intellectual disability syndrome|not provided|GMPPA-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}