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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: 1-150816806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150816806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150816806,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001668.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "NM_001668.4",
"protein_id": "NP_001659.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 789,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358595.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001668.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000358595.10",
"protein_id": "ENSP00000351407.5",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 789,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001668.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358595.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000354396.6",
"protein_id": "ENSP00000346372.2",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 787,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354396.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "ENST00000515192.5",
"protein_id": "ENSP00000423851.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 775,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "n.*94+1122G>A",
"hgvs_p": null,
"transcript": "ENST00000471844.6",
"protein_id": "ENSP00000425899.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471844.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1832G>A",
"hgvs_p": "p.Arg611Gln",
"transcript": "ENST00000921690.1",
"protein_id": "ENSP00000591749.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 805,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921690.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Arg609Gln",
"transcript": "ENST00000904326.1",
"protein_id": "ENSP00000574385.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 803,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904326.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000904334.1",
"protein_id": "ENSP00000574393.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 797,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904334.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000948856.1",
"protein_id": "ENSP00000618915.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 796,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948856.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603Gln",
"transcript": "ENST00000948859.1",
"protein_id": "ENSP00000618918.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 795,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948859.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"transcript": "NM_001350225.2",
"protein_id": "NP_001337154.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 788,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350225.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000904320.1",
"protein_id": "ENSP00000574379.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 788,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904320.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000948858.1",
"protein_id": "ENSP00000618917.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 788,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948858.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "NM_001286036.2",
"protein_id": "NP_001272965.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 787,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286036.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "NM_001350226.2",
"protein_id": "NP_001337155.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 787,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350226.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000904327.1",
"protein_id": "ENSP00000574386.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 786,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904327.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1769G>A",
"hgvs_p": "p.Arg590Gln",
"transcript": "ENST00000904332.1",
"protein_id": "ENSP00000574391.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 783,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904332.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Gln",
"transcript": "ENST00000921688.1",
"protein_id": "ENSP00000591747.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 782,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921688.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1769G>A",
"hgvs_p": "p.Arg590Gln",
"transcript": "ENST00000904331.1",
"protein_id": "ENSP00000574390.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 781,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904331.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586Gln",
"transcript": "NM_001350224.2",
"protein_id": "NP_001337153.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 780,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350224.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "NM_001286035.2",
"protein_id": "NP_001272964.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 775,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286035.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARNT",
"gene_hgnc_id": 700,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580Gln",
"transcript": "NM_178427.3",
"protein_id": "NP_848514.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 774,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
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{
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{
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],
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"gene_symbol": "ARNT",
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"transcript": "XM_017001293.2",
"protein_id": "XP_016856782.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "ARNT",
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"dbsnp": "rs768182420",
"frequency_reference_population": 0.000008849289,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000629323,
"gnomad_genomes_af": 0.0000329077,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32441848516464233,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.1273,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.713,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001668.4",
"gene_symbol": "ARNT",
"hgnc_id": 700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln"
}
],
"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
}