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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: 12-109947375-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109947375&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109947375,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_057169.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "NM_057169.5",
"protein_id": "NP_476510.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 759,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "ENST00000355312.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057169.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000355312.8",
"protein_id": "ENSP00000347464.3",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 759,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "NM_057169.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355312.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Trp",
"transcript": "ENST00000457474.6",
"protein_id": "ENSP00000391813.2",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 681,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457474.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*1448C>T",
"hgvs_p": null,
"transcript": "ENST00000547815.5",
"protein_id": "ENSP00000450348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547815.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Arg507Trp",
"transcript": "ENST00000876497.1",
"protein_id": "ENSP00000546556.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 758,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876497.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Arg507Trp",
"transcript": "ENST00000876510.1",
"protein_id": "ENSP00000546569.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 758,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876510.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Arg493Trp",
"transcript": "ENST00000876499.1",
"protein_id": "ENSP00000546558.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 744,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876499.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000876494.1",
"protein_id": "ENSP00000546553.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 743,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876494.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "NM_001135214.3",
"protein_id": "NP_001128686.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 729,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135214.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000361006.9",
"protein_id": "ENSP00000354282.5",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 729,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361006.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Arg507Trp",
"transcript": "ENST00000876504.1",
"protein_id": "ENSP00000546563.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 728,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876504.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Arg493Trp",
"transcript": "ENST00000876503.1",
"protein_id": "ENSP00000546562.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 714,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876503.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000935696.1",
"protein_id": "ENSP00000605755.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 713,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935696.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "ENST00000876495.1",
"protein_id": "ENSP00000546554.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 709,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876495.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Trp",
"transcript": "NM_001330153.2",
"protein_id": "NP_001317082.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 708,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330153.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Trp",
"transcript": "ENST00000551209.5",
"protein_id": "ENSP00000448832.1",
"transcript_support_level": 5,
"aa_start": 457,
"aa_end": null,
"aa_length": 708,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551209.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Trp",
"transcript": "NM_001135213.3",
"protein_id": "NP_001128685.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 681,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135213.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "NM_014776.5",
"protein_id": "NP_055591.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 679,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014776.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Trp",
"transcript": "ENST00000876500.1",
"protein_id": "ENSP00000546559.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 679,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876500.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Trp",
"transcript": "ENST00000876509.1",
"protein_id": "ENSP00000546568.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 678,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876509.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446Trp",
"transcript": "ENST00000550186.5",
"protein_id": "ENSP00000473637.1",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 640,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1925,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550186.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1519C>T",
"hgvs_p": "p.Arg507Trp",
"transcript": "XM_005253997.5",
"protein_id": "XP_005254054.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 758,
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{
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{
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"biotype": "pseudogene",
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],
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"dbsnp": "rs376799498",
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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": 0.7895875573158264,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.604,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.112,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_057169.5",
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp"
},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000544838.5",
"gene_symbol": "TCHP",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}