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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: 14-23416089-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23416089&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000257.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MHRT",
"hgnc_id": 51291,
"hgvs_c": "n.350T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NR_126491.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 32,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2842,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiomyopathy,Hypertrophic cardiomyopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5305359363555908,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 4973,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_000257.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355349.4",
"protein_coding": true,
"protein_id": "NP_000248.2",
"strand": false,
"transcript": "NM_000257.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 4973,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000355349.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000257.4",
"protein_coding": true,
"protein_id": "ENSP00000347507.3",
"strand": false,
"transcript": "ENST00000355349.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 4973,
"cds_end": null,
"cds_length": 5853,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858540.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528599.1",
"strand": false,
"transcript": "ENST00000858540.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 5070,
"cds_end": null,
"cds_length": 5853,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000965955.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636014.1",
"strand": false,
"transcript": "ENST00000965955.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 4973,
"cds_end": null,
"cds_length": 5835,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000713768.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519070.1",
"strand": false,
"transcript": "ENST00000713768.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "N",
"aa_start": 1632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 5000,
"cds_end": null,
"cds_length": 5835,
"cds_start": 4895,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858547.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4895A>G",
"hgvs_p": "p.Asn1632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528606.1",
"strand": false,
"transcript": "ENST00000858547.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1943,
"aa_ref": "N",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 4999,
"cds_end": null,
"cds_length": 5832,
"cds_start": 4892,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000965946.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4892A>G",
"hgvs_p": "p.Asn1631Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636005.1",
"strand": false,
"transcript": "ENST00000965946.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "N",
"aa_start": 1628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 4989,
"cds_end": null,
"cds_length": 5823,
"cds_start": 4883,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858544.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4883A>G",
"hgvs_p": "p.Asn1628Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528603.1",
"strand": false,
"transcript": "ENST00000858544.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 4917,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001407004.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393933.1",
"strand": false,
"transcript": "NM_001407004.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 4917,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000713769.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519071.1",
"strand": false,
"transcript": "ENST00000713769.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "N",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 4990,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858541.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528600.1",
"strand": false,
"transcript": "ENST00000858541.1",
"transcript_support_level": null
},
{
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 4994,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000858545.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528604.1",
"strand": false,
"transcript": "ENST00000858545.1",
"transcript_support_level": null
},
{
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 4992,
"cds_end": null,
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"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858546.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528605.1",
"strand": false,
"transcript": "ENST00000858546.1",
"transcript_support_level": null
},
{
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 5039,
"cds_end": null,
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"consequences": [
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],
"exon_count": 40,
"exon_rank": 34,
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"feature": "ENST00000858549.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528608.1",
"strand": false,
"transcript": "ENST00000858549.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 4989,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000858550.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528609.1",
"strand": false,
"transcript": "ENST00000858550.1",
"transcript_support_level": null
},
{
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 4950,
"cds_end": null,
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"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000858551.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528610.1",
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"transcript": "ENST00000858551.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5128,
"cds_end": null,
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"consequences": [
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],
"exon_count": 40,
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"feature": "ENST00000965935.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
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"protein_coding": true,
"protein_id": "ENSP00000635994.1",
"strand": false,
"transcript": "ENST00000965935.1",
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},
{
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"cdna_length": 6147,
"cdna_start": 5094,
"cds_end": null,
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"consequences": [
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],
"exon_count": 40,
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"feature": "ENST00000965936.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635995.1",
"strand": false,
"transcript": "ENST00000965936.1",
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},
{
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"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 6395,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000965937.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635996.1",
"strand": false,
"transcript": "ENST00000965937.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1935,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 5045,
"cds_end": null,
"cds_length": 5808,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000965938.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.4868A>G",
"hgvs_p": "p.Asn1623Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635997.1",
"strand": false,
"transcript": "ENST00000965938.1",
"transcript_support_level": null
},
{
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{
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],
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"pathogenicity_classification_combined": "Uncertain significance",
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"phylop100way_prediction": "Pathogenic",
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}
]
}