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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: 1-31577284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31577284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31577284,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022164.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "NM_022164.3",
"protein_id": "NP_071447.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 467,
"cds_start": 136,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271064.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022164.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000271064.12",
"protein_id": "ENSP00000271064.7",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 467,
"cds_start": 136,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022164.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271064.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000861777.1",
"protein_id": "ENSP00000531836.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 597,
"cds_start": 136,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861777.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000861779.1",
"protein_id": "ENSP00000531838.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 537,
"cds_start": 136,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861779.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000964677.1",
"protein_id": "ENSP00000634736.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 484,
"cds_start": 136,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964677.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000861775.1",
"protein_id": "ENSP00000531834.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 467,
"cds_start": 136,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861775.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000861776.1",
"protein_id": "ENSP00000531835.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 467,
"cds_start": 136,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861776.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000861778.1",
"protein_id": "ENSP00000531837.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 467,
"cds_start": 136,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861778.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "NM_001204414.2",
"protein_id": "NP_001191343.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 436,
"cds_start": 136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204414.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "ENST00000457433.6",
"protein_id": "ENSP00000395137.2",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 436,
"cds_start": 136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457433.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Trp",
"transcript": "XM_005271106.4",
"protein_id": "XP_005271163.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 440,
"cds_start": 136,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271106.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.-6+689C>T",
"hgvs_p": null,
"transcript": "XM_005271107.2",
"protein_id": "XP_005271164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271107.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.-6+689C>T",
"hgvs_p": null,
"transcript": "XM_047427608.1",
"protein_id": "XP_047283564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "c.-62+689C>T",
"hgvs_p": null,
"transcript": "XM_011541946.2",
"protein_id": "XP_011540248.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000466998.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000466998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"transcript": "ENST00000481165.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000481165.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "n.54+689C>T",
"hgvs_p": null,
"transcript": "ENST00000461030.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000461030.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TINAGL1",
"gene_hgnc_id": 19168,
"hgvs_c": "n.28+689C>T",
"hgvs_p": null,
"transcript": "ENST00000478398.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000478398.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LINC01226",
"gene_hgnc_id": 49678,
"hgvs_c": "n.456-5865C>T",
"hgvs_p": null,
"transcript": "ENST00000639839.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000639839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LINC01226",
"gene_hgnc_id": 49678,
"hgvs_c": "n.394-5865C>T",
"hgvs_p": null,
"transcript": "ENST00000640226.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000640226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000229167",
"gene_hgnc_id": null,
"hgvs_c": "n.55+560G>A",
"hgvs_p": null,
"transcript": "ENST00000664491.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000664491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000229167",
"gene_hgnc_id": null,
"hgvs_c": "n.55+560G>A",
"hgvs_p": null,
"transcript": "ENST00000763258.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000763258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
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{
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],
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022164.3",
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"effects": [
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],
"inheritance_mode": "AR",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639839.1",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_188670.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.54+560G>A",
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},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000664491.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"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
}