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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: 12-85983615-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=85983615&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 85983615,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001351282.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351288.2",
"protein_id": "NP_001338217.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611864.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351288.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000611864.5",
"protein_id": "ENSP00000481096.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001351288.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611864.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000621808.5",
"protein_id": "ENSP00000478300.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621808.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000547225.5",
"protein_id": "ENSP00000449172.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 396,
"cds_start": 203,
"cds_end": null,
"cds_length": 1193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547225.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001351282.2",
"protein_id": "NP_001338211.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 516,
"cds_start": 317,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351282.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "NM_001351283.2",
"protein_id": "NP_001338212.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 507,
"cds_start": 290,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351283.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "NM_001351284.2",
"protein_id": "NP_001338213.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 507,
"cds_start": 290,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351284.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351285.2",
"protein_id": "NP_001338214.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351285.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351286.2",
"protein_id": "NP_001338215.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351286.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351287.2",
"protein_id": "NP_001338216.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351287.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351289.2",
"protein_id": "NP_001338218.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351289.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_001351291.2",
"protein_id": "NP_001338220.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351291.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "NM_013244.5",
"protein_id": "NP_037376.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013244.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000548651.6",
"protein_id": "ENSP00000447253.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548651.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000552808.7",
"protein_id": "ENSP00000446647.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552808.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000620241.5",
"protein_id": "ENSP00000477650.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620241.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000899085.1",
"protein_id": "ENSP00000569144.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899085.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000899086.1",
"protein_id": "ENSP00000569145.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899086.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000899087.1",
"protein_id": "ENSP00000569146.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899087.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000899088.1",
"protein_id": "ENSP00000569147.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899088.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000899089.1",
"protein_id": "ENSP00000569148.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899089.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.203G>T",
"hgvs_p": "p.Arg68Leu",
"transcript": "ENST00000929698.1",
"protein_id": "ENSP00000599757.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 478,
"cds_start": 203,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": 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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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "MGAT4C",
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"biotype": "pseudogene",
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}
],
"gene_symbol": "MGAT4C",
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"dbsnp": "rs200651947",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4029075801372528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.1649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.859,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001351282.2",
"gene_symbol": "MGAT4C",
"hgnc_id": 30871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu"
}
],
"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
}