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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: 2-168856702-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168856702&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 168856702,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039724.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.977T>A",
"hgvs_p": "p.Met326Lys",
"transcript": "NM_001039724.4",
"protein_id": "NP_001034813.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 506,
"cds_start": 977,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "ENST00000317647.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.977T>A",
"hgvs_p": "p.Met326Lys",
"transcript": "ENST00000317647.12",
"protein_id": "ENSP00000318921.7",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 506,
"cds_start": 977,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "NM_001039724.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.893T>A",
"hgvs_p": "p.Met298Lys",
"transcript": "ENST00000397209.6",
"protein_id": "ENSP00000380392.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 478,
"cds_start": 893,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.743T>A",
"hgvs_p": "p.Met248Lys",
"transcript": "ENST00000397206.6",
"protein_id": "ENSP00000380390.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 428,
"cds_start": 743,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.743T>A",
"hgvs_p": "p.Met248Lys",
"transcript": "ENST00000445023.6",
"protein_id": "ENSP00000404413.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 428,
"cds_start": 743,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1148T>A",
"hgvs_p": "p.Met383Lys",
"transcript": "NM_001171631.2",
"protein_id": "NP_001165102.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 563,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1148T>A",
"hgvs_p": "p.Met383Lys",
"transcript": "ENST00000444448.6",
"protein_id": "ENSP00000394051.2",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 563,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1148T>A",
"hgvs_p": "p.Met383Lys",
"transcript": "ENST00000458381.6",
"protein_id": "ENSP00000402140.2",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 563,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.893T>A",
"hgvs_p": "p.Met298Lys",
"transcript": "NM_001171632.2",
"protein_id": "NP_001165103.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 478,
"cds_start": 893,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.743T>A",
"hgvs_p": "p.Met248Lys",
"transcript": "NM_052946.4",
"protein_id": "NP_443178.2",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 428,
"cds_start": 743,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1085T>A",
"hgvs_p": "p.Met362Lys",
"transcript": "XM_005246270.2",
"protein_id": "XP_005246327.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 542,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1148T>A",
"hgvs_p": "p.Met383Lys",
"transcript": "XM_006712233.4",
"protein_id": "XP_006712296.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 542,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1148T>A",
"hgvs_p": "p.Met383Lys",
"transcript": "XM_011510540.3",
"protein_id": "XP_011508842.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 521,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.977T>A",
"hgvs_p": "p.Met326Lys",
"transcript": "XM_017003278.2",
"protein_id": "XP_016858767.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 485,
"cds_start": 977,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.914T>A",
"hgvs_p": "p.Met305Lys",
"transcript": "XM_017003279.2",
"protein_id": "XP_016858768.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 485,
"cds_start": 914,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.914T>A",
"hgvs_p": "p.Met305Lys",
"transcript": "XM_024452662.2",
"protein_id": "XP_024308430.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 485,
"cds_start": 914,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.602T>A",
"hgvs_p": "p.Met201Lys",
"transcript": "XM_011510543.3",
"protein_id": "XP_011508845.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 381,
"cds_start": 602,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.431T>A",
"hgvs_p": "p.Met144Lys",
"transcript": "XM_047443189.1",
"protein_id": "XP_047299145.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 324,
"cds_start": 431,
"cds_end": null,
"cds_length": 975,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1544,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.*315T>A",
"hgvs_p": null,
"transcript": "ENST00000427068.1",
"protein_id": "ENSP00000388597.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 475,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.1017T>A",
"hgvs_p": null,
"transcript": "ENST00000472260.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.1483T>A",
"hgvs_p": null,
"transcript": "XR_007069110.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.*315T>A",
"hgvs_p": null,
"transcript": "ENST00000427068.1",
"protein_id": "ENSP00000388597.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPC25",
"gene_hgnc_id": 24031,
"hgvs_c": "n.419+16883A>T",
"hgvs_p": null,
"transcript": "ENST00000479309.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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},
{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000479309.6",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}