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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: 12-1027920-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1027920&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1027920,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178040.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_178040.4",
"protein_id": "NP_829884.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 9308,
"mane_select": "ENST00000360905.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178040.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000360905.9",
"protein_id": "ENSP00000354158.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 9308,
"mane_select": "NM_178040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360905.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000589028.6",
"protein_id": "ENSP00000468263.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589028.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000543086.7",
"protein_id": "ENSP00000438546.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 9241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543086.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000355446.9",
"protein_id": "ENSP00000347621.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 1086,
"cds_start": 17,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 5796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355446.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000347735.10",
"protein_id": "ENSP00000340054.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000347735.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000440394.7",
"protein_id": "ENSP00000410064.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7040,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000440394.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000545948.5",
"protein_id": "ENSP00000442976.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545948.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000546231.6",
"protein_id": "ENSP00000442739.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 1120,
"cds_start": 17,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546231.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000950324.1",
"protein_id": "ENSP00000620383.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1120,
"cds_start": 17,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950324.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000950325.1",
"protein_id": "ENSP00000620384.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1120,
"cds_start": 17,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950325.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000950327.1",
"protein_id": "ENSP00000620386.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1120,
"cds_start": 17,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950327.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000397203.7",
"protein_id": "ENSP00000380386.4",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 7033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397203.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895621.1",
"protein_id": "ENSP00000565680.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895621.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895624.1",
"protein_id": "ENSP00000565683.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895624.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895626.1",
"protein_id": "ENSP00000565685.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895626.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895631.1",
"protein_id": "ENSP00000565690.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1116,
"cds_start": 17,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895631.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "NM_178039.4",
"protein_id": "NP_829883.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 9224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178039.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895622.1",
"protein_id": "ENSP00000565681.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895622.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895623.1",
"protein_id": "ENSP00000565682.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895623.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000895625.1",
"protein_id": "ENSP00000565684.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895625.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu",
"transcript": "ENST00000916653.1",
"protein_id": "ENSP00000586712.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1088,
"cds_start": 17,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 9190,
"mane_select": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "ERC1",
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"transcript": "ENST00000690948.1",
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"cds_start": null,
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"cds_length": null,
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"cdna_length": 2594,
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"biotype": "pseudogene",
"feature": "ENST00000690948.1"
}
],
"gene_symbol": "ERC1",
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"dbsnp": "rs140435811",
"frequency_reference_population": 6.8682357e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86824e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7922137975692749,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.646,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.911,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_178040.4",
"gene_symbol": "ERC1",
"hgnc_id": 17072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Arg6Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}