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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: 17-532865-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=532865&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 532865,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001128159.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2062A>T",
"hgvs_p": "p.Ile688Phe",
"transcript": "NM_001128159.3",
"protein_id": "NP_001121631.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 832,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000437048.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128159.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2062A>T",
"hgvs_p": "p.Ile688Phe",
"transcript": "ENST00000437048.7",
"protein_id": "ENSP00000401435.2",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 832,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128159.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437048.7"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2062A>T",
"hgvs_p": "p.Ile688Phe",
"transcript": "ENST00000571805.6",
"protein_id": "ENSP00000459312.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 699,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571805.6"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1975A>T",
"hgvs_p": "p.Ile659Phe",
"transcript": "ENST00000291074.10",
"protein_id": "ENSP00000291074.5",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 670,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291074.10"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1231A>T",
"hgvs_p": "p.Ile411Phe",
"transcript": "ENST00000401468.7",
"protein_id": "ENSP00000384294.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 422,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401468.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.*221A>T",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000389040.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "n.*221A>T",
"hgvs_p": null,
"transcript": "ENST00000389040.9",
"protein_id": "ENSP00000373692.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000389040.9"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1912A>T",
"hgvs_p": "p.Ile638Phe",
"transcript": "ENST00000681510.1",
"protein_id": "ENSP00000505594.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 782,
"cds_start": 1912,
"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": "ENST00000681510.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1693A>T",
"hgvs_p": "p.Ile565Phe",
"transcript": "ENST00000681160.1",
"protein_id": "ENSP00000504905.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 709,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681160.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2062A>T",
"hgvs_p": "p.Ile688Phe",
"transcript": "NM_001366253.2",
"protein_id": "NP_001353182.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 699,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366253.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1975A>T",
"hgvs_p": "p.Ile659Phe",
"transcript": "NM_018289.4",
"protein_id": "NP_060759.2",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 670,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018289.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Ile511Phe",
"transcript": "ENST00000681917.1",
"protein_id": "ENSP00000505944.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 655,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681917.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1858A>T",
"hgvs_p": "p.Ile620Phe",
"transcript": "ENST00000680128.1",
"protein_id": "ENSP00000506159.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 631,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680128.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1693A>T",
"hgvs_p": "p.Ile565Phe",
"transcript": "ENST00000572334.7",
"protein_id": "ENSP00000506188.1",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 571,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572334.7"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1693A>T",
"hgvs_p": "p.Ile565Phe",
"transcript": "ENST00000680704.1",
"protein_id": "ENSP00000506453.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 571,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680704.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1603A>T",
"hgvs_p": "p.Ile535Phe",
"transcript": "ENST00000681096.1",
"protein_id": "ENSP00000506052.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 546,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681096.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1468A>T",
"hgvs_p": "p.Ile490Phe",
"transcript": "NM_001366254.2",
"protein_id": "NP_001353183.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 501,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366254.2"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.292A>T",
"hgvs_p": "p.Ile98Phe",
"transcript": "ENST00000681103.1",
"protein_id": "ENSP00000505892.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 242,
"cds_start": 292,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681103.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.292A>T",
"hgvs_p": "p.Ile98Phe",
"transcript": "ENST00000681858.1",
"protein_id": "ENSP00000505044.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 233,
"cds_start": 292,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681858.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.292A>T",
"hgvs_p": "p.Ile98Phe",
"transcript": "ENST00000679817.1",
"protein_id": "ENSP00000505032.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 109,
"cds_start": 292,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679817.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.2062A>T",
"hgvs_p": "p.Ile688Phe",
"transcript": "XM_047436344.1",
"protein_id": "XP_047292300.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 832,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436344.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "VPS53",
"gene_hgnc_id": 25608,
"hgvs_c": "c.1975A>T",
"hgvs_p": "p.Ile659Phe",
"transcript": "XM_047436345.1",
"protein_id": "XP_047292301.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 803,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2412,
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.898,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.694-7524T>A",
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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
}