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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: 10-103101309-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103101309&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 103101309,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001351170.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "NM_001351169.2",
"protein_id": "NP_001338098.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404739.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351169.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000404739.8",
"protein_id": "ENSP00000383960.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001351169.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404739.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000343289.9",
"protein_id": "ENSP00000339479.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343289.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Gln208Arg",
"transcript": "ENST00000874311.1",
"protein_id": "ENSP00000544370.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 633,
"cds_start": 623,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874311.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Gln200Arg",
"transcript": "ENST00000920544.1",
"protein_id": "ENSP00000590603.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 625,
"cds_start": 599,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920544.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000920542.1",
"protein_id": "ENSP00000590601.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 580,
"cds_start": 431,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920542.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000874307.1",
"protein_id": "ENSP00000544366.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 572,
"cds_start": 407,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874307.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "NM_001351170.2",
"protein_id": "NP_001338099.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351170.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "NM_001351171.2",
"protein_id": "NP_001338100.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351171.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "NM_001351172.2",
"protein_id": "NP_001338101.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351172.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "NM_001351173.2",
"protein_id": "NP_001338102.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351173.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000674860.1",
"protein_id": "ENSP00000502816.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674860.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000874298.1",
"protein_id": "ENSP00000544357.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874298.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000874299.1",
"protein_id": "ENSP00000544358.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874299.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000874306.1",
"protein_id": "ENSP00000544365.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874306.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000874315.1",
"protein_id": "ENSP00000544374.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874315.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg",
"transcript": "ENST00000964137.1",
"protein_id": "ENSP00000634196.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 569,
"cds_start": 431,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964137.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "NM_001134373.3",
"protein_id": "NP_001127845.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134373.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "NM_012229.5",
"protein_id": "NP_036361.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012229.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000674696.1",
"protein_id": "ENSP00000502679.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674696.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000675326.1",
"protein_id": "ENSP00000502205.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675326.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C2",
"gene_hgnc_id": 8022,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Gln136Arg",
"transcript": "ENST00000676428.1",
"protein_id": "ENSP00000501689.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 561,
"cds_start": 407,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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"gene_symbol": "NT5C2",
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"transcript": "ENST00000675436.1",
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{
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"gene_symbol": "NT5C2",
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"transcript": "ENST00000675811.1",
"protein_id": "ENSP00000501901.1",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "NT5C2",
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"dbsnp": "rs12262171",
"frequency_reference_population": 0.00013066779,
"hom_count_reference_population": 0,
"allele_count_reference_population": 209,
"gnomad_exomes_af": 0.0000656447,
"gnomad_genomes_af": 0.000748562,
"gnomad_exomes_ac": 95,
"gnomad_genomes_ac": 114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010461002588272095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.1194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.619,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001351170.2",
"gene_symbol": "NT5C2",
"hgnc_id": 8022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.431A>G",
"hgvs_p": "p.Gln144Arg"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 45",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary spastic paraplegia 45",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}