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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: 19-44172212-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44172212&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44172212,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001032373.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001032373.2",
"protein_id": "NP_001027545.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "ENST00000337433.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000337433.10",
"protein_id": "ENSP00000336719.5",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "NM_001032373.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000454662.6",
"protein_id": "ENSP00000393265.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000590089.5",
"protein_id": "ENSP00000465121.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000590578.5",
"protein_id": "ENSP00000468779.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 126,
"cds_start": 140,
"cds_end": null,
"cds_length": 381,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000300823.10",
"protein_id": "ENSP00000300823.5",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 94,
"cds_start": 140,
"cds_end": null,
"cds_length": 285,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000588742.5",
"protein_id": "ENSP00000467003.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 94,
"cds_start": 140,
"cds_end": null,
"cds_length": 285,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000588795.5",
"protein_id": "ENSP00000464735.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 89,
"cds_start": 140,
"cds_end": null,
"cds_length": 270,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000588883.5",
"protein_id": "ENSP00000465401.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 89,
"cds_start": 140,
"cds_end": null,
"cds_length": 270,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001032372.2",
"protein_id": "NP_001027544.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001319088.2",
"protein_id": "NP_001306017.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 449,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001319089.2",
"protein_id": "NP_001306018.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
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"cdna_start": 306,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001319090.2",
"protein_id": "NP_001306019.1",
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"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
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"cdna_start": 326,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"splice_region_variant"
],
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"intron_rank": null,
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"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
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"transcript": "NM_001388168.1",
"protein_id": "NP_001375097.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001388169.1",
"protein_id": "NP_001375098.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
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"splice_region_variant"
],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "ZNF226",
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"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001388170.1",
"protein_id": "NP_001375099.1",
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"cdna_start": 458,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001388171.1",
"protein_id": "NP_001375100.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 803,
"cds_start": 140,
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"cdna_start": 495,
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"cdna_length": 2778,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001388172.1",
"protein_id": "NP_001375101.1",
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},
{
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"strand": true,
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"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_016444.3",
"protein_id": "NP_057528.2",
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"mane_select": null,
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},
{
"aa_ref": "V",
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"strand": true,
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"splice_region_variant"
],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "NM_001388178.1",
"protein_id": "NP_001375107.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 767,
"cds_start": 32,
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"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000590524.1",
"protein_id": "ENSP00000467766.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 152,
"cds_start": 140,
"cds_end": null,
"cds_length": 459,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000588127.5",
"protein_id": "ENSP00000466141.1",
"transcript_support_level": 4,
"aa_start": 47,
"aa_end": null,
"aa_length": 138,
"cds_start": 140,
"cds_end": null,
"cds_length": 417,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
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],
"gene_symbol": "ZNF226",
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"dbsnp": "rs769103178",
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.1287,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.151,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001032373.2",
"gene_symbol": "ZNF226",
"hgnc_id": 13019,
"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Val47Ala"
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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
}