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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: 2-33280072-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=33280072&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 33280072,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000404816.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "NM_206943.4",
"protein_id": "NP_996826.3",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1721,
"cds_start": 3026,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "ENST00000404816.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "ENST00000404816.7",
"protein_id": "ENSP00000386043.2",
"transcript_support_level": 5,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1721,
"cds_start": 3026,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "NM_206943.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "ENST00000407925.5",
"protein_id": "ENSP00000384091.1",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 1395,
"cds_start": 2048,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "ENST00000418533.6",
"protein_id": "ENSP00000393057.2",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2048,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Pro630Leu",
"transcript": "ENST00000404525.5",
"protein_id": "ENSP00000385359.1",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1889,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2867C>T",
"hgvs_p": "p.Pro956Leu",
"transcript": "NM_001394905.1",
"protein_id": "NP_001381834.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1668,
"cds_start": 2867,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "NM_000627.4",
"protein_id": "NP_000618.4",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1395,
"cds_start": 2048,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Pro682Leu",
"transcript": "NM_001394906.1",
"protein_id": "NP_001381835.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1394,
"cds_start": 2045,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Pro654Leu",
"transcript": "NM_001394907.1",
"protein_id": "NP_001381836.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1961,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "NM_001166264.2",
"protein_id": "NP_001159736.2",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2048,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1922C>T",
"hgvs_p": "p.Pro641Leu",
"transcript": "NM_001394909.1",
"protein_id": "NP_001381838.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 1353,
"cds_start": 1922,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Pro682Leu",
"transcript": "NM_001394910.1",
"protein_id": "NP_001381839.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2045,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Pro640Leu",
"transcript": "NM_001394911.1",
"protein_id": "NP_001381840.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1352,
"cds_start": 1919,
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"cds_length": 4059,
"cdna_start": 2061,
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"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "NM_001394912.1",
"protein_id": "NP_001381841.1",
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"aa_start": 683,
"aa_end": null,
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"cds_start": 2048,
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"cdna_start": 2190,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Pro630Leu",
"transcript": "NM_001166265.2",
"protein_id": "NP_001159737.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 1342,
"cds_start": 1889,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 2031,
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"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Pro629Leu",
"transcript": "NM_001394913.1",
"protein_id": "NP_001381842.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
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"cds_start": 1886,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Pro630Leu",
"transcript": "ENST00000402934.5",
"protein_id": "ENSP00000384373.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 1340,
"cds_start": 1889,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2002,
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"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1838C>T",
"hgvs_p": "p.Pro613Leu",
"transcript": "NM_001394914.1",
"protein_id": "NP_001381843.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 1325,
"cds_start": 1838,
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"cdna_start": 1980,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Pro655Leu",
"transcript": "NM_001394915.1",
"protein_id": "NP_001381844.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1805C>T",
"hgvs_p": "p.Pro602Leu",
"transcript": "NM_001394916.1",
"protein_id": "NP_001381845.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.1922C>T",
"hgvs_p": "p.Pro641Leu",
"transcript": "NM_001394917.1",
"protein_id": "NP_001381846.1",
"transcript_support_level": null,
"aa_start": 641,
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"aa_length": 1311,
"cds_start": 1922,
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"cdna_start": 2064,
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"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP1",
"gene_hgnc_id": 6714,
"hgvs_c": "c.2048C>T",
"hgvs_p": "p.Pro683Leu",
"transcript": "NM_001394918.1",
"protein_id": "NP_001381847.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2048,
"cds_end": null,
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"cdna_start": 2190,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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{
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{
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.432,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 4,
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"PM2",
"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000650179.1",
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"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}