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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: X-14843836-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14843836&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14843836,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000650831.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_001018113.3",
"protein_id": "NP_001018123.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "ENST00000650831.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000650831.1",
"protein_id": "ENSP00000498215.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": "NM_001018113.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000324138.7",
"protein_id": "ENSP00000326819.3",
"transcript_support_level": 1,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000452869.2",
"protein_id": "ENSP00000397849.2",
"transcript_support_level": 1,
"aa_start": 771,
"aa_end": null,
"aa_length": 832,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_001410764.1",
"protein_id": "NP_001397693.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 929,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696353.1",
"protein_id": "ENSP00000512574.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 929,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696354.1",
"protein_id": "ENSP00000512575.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 880,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696311.1",
"protein_id": "ENSP00000512549.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 864,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_001324162.2",
"protein_id": "NP_001311091.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "NM_152633.4",
"protein_id": "NP_689846.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696312.1",
"protein_id": "ENSP00000512550.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696356.1",
"protein_id": "ENSP00000512577.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "ENST00000696357.1",
"protein_id": "ENSP00000512578.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_047441920.1",
"protein_id": "XP_047297876.1",
"transcript_support_level": null,
"aa_start": 771,
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"aa_length": 859,
"cds_start": 2311,
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"cdna_start": 6528,
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"cdna_length": 6959,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_047441921.1",
"protein_id": "XP_047297877.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 859,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 6339,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_017029356.2",
"protein_id": "XP_016884845.1",
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"aa_start": 771,
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"cdna_start": 2586,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_047441922.1",
"protein_id": "XP_047297878.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 832,
"cds_start": 2311,
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"cdna_start": 2565,
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"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_047441923.1",
"protein_id": "XP_047297879.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 832,
"cds_start": 2311,
"cds_end": null,
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"cdna_start": 2465,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly",
"transcript": "XM_047441924.1",
"protein_id": "XP_047297880.1",
"transcript_support_level": null,
"aa_start": 771,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1390A>G",
"hgvs_p": null,
"transcript": "ENST00000643728.2",
"protein_id": "ENSP00000495047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1303A>G",
"hgvs_p": null,
"transcript": "ENST00000646255.1",
"protein_id": "ENSP00000494963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
"gene_hgnc_id": 3583,
"hgvs_c": "n.*1056A>G",
"hgvs_p": null,
"transcript": "ENST00000696322.1",
"protein_id": "ENSP00000512559.1",
"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": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCB",
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}
],
"gene_symbol": "FANCB",
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"dbsnp": "rs750381270",
"frequency_reference_population": 0.000018207504,
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"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000191496,
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"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.010149747133255005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.06,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650831.1",
"gene_symbol": "FANCB",
"hgnc_id": 3583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,XL",
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Ser771Gly"
}
],
"clinvar_disease": " X-linked, with or without hydrocephalus,FANCB-related disorder,Fanconi anemia,Fanconi anemia complementation group B,Inborn genetic diseases,VACTERL association",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "Fanconi anemia complementation group B|VACTERL association, X-linked, with or without hydrocephalus|Fanconi anemia|FANCB-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}