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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: 15-89646817-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89646817&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89646817,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_198525.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "NM_198525.3",
"protein_id": "NP_940927.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": null,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394412.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198525.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000394412.8",
"protein_id": "ENSP00000377934.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": null,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198525.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394412.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1911+13T>C",
"hgvs_p": null,
"transcript": "ENST00000696512.1",
"protein_id": "ENSP00000512678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": null,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1803+13T>C",
"hgvs_p": null,
"transcript": "ENST00000946200.1",
"protein_id": "ENSP00000616259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1347,
"cds_start": null,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896349.1",
"protein_id": "ENSP00000566408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": null,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896344.1",
"protein_id": "ENSP00000566403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896345.1",
"protein_id": "ENSP00000566404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896346.1",
"protein_id": "ENSP00000566405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896348.1",
"protein_id": "ENSP00000566407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000929691.1",
"protein_id": "ENSP00000599750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000929694.1",
"protein_id": "ENSP00000599753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929694.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000946199.1",
"protein_id": "ENSP00000616258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946199.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000946201.1",
"protein_id": "ENSP00000616260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946201.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896347.1",
"protein_id": "ENSP00000566406.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000896347.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000929695.1",
"protein_id": "ENSP00000599754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000929695.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
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"transcript": "ENST00000946205.1",
"protein_id": "ENSP00000616264.1",
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"biotype": "protein_coding",
"feature": "ENST00000946205.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000946206.1",
"protein_id": "ENSP00000616265.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000946206.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000929693.1",
"protein_id": "ENSP00000599752.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000929693.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 7,
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"gene_symbol": "KIF7",
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"hgvs_c": "c.1788+13T>C",
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"transcript": "ENST00000929697.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "KIF7",
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"hgvs_c": "c.1788+13T>C",
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"transcript": "ENST00000946203.1",
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},
{
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"strand": false,
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],
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"intron_rank": 7,
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"gene_symbol": "KIF7",
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"hgvs_c": "c.1788+13T>C",
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"transcript": "ENST00000946202.1",
"protein_id": "ENSP00000616261.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946202.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.1788+13T>C",
"hgvs_p": null,
"transcript": "ENST00000896350.1",
"protein_id": "ENSP00000566409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000896350.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.757,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_198525.3",
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"inheritance_mode": "AR",
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],
"clinvar_disease": " Al-Gazali type,Acrocallosal syndrome,Hydrolethalus syndrome 2,Multiple epiphyseal dysplasia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9",
"phenotype_combined": "not specified|Acrocallosal syndrome|not provided|Multiple epiphyseal dysplasia, Al-Gazali type|Hydrolethalus syndrome 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}