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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: 5-57249559-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=57249559&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPBP1",
"hgnc_id": 29520,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001331037.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 489,
"alphamissense_prediction": null,
"alphamissense_score": 0.071,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003492683172225952,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022913.4",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000506184.7",
"protein_coding": true,
"protein_id": "NP_075064.1",
"strand": true,
"transcript": "NM_022913.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000506184.7",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022913.4",
"protein_coding": true,
"protein_id": "ENSP00000421202.2",
"strand": true,
"transcript": "ENST00000506184.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1443,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000264779.6",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264779.6",
"strand": true,
"transcript": "ENST00000264779.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 302,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 2008,
"cds_end": null,
"cds_length": 909,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000514387.6",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421709.2",
"strand": true,
"transcript": "ENST00000514387.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001331037.2",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317966.1",
"strand": true,
"transcript": "NM_001331037.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000424459.7",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401596.2",
"strand": true,
"transcript": "ENST00000424459.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1458,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899293.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569352.1",
"strand": true,
"transcript": "ENST00000899293.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 1458,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899297.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569356.1",
"strand": true,
"transcript": "ENST00000899297.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 1458,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000952544.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622603.1",
"strand": true,
"transcript": "ENST00000952544.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1443,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001127236.2",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120708.1",
"strand": true,
"transcript": "NM_001127236.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 478,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 1437,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899292.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569351.1",
"strand": true,
"transcript": "ENST00000899292.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 478,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 1437,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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"exon_rank_end": null,
"feature": "ENST00000935647.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605706.1",
"strand": true,
"transcript": "ENST00000935647.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 2018,
"cds_end": null,
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"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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"exon_rank_end": null,
"feature": "ENST00000935648.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605707.1",
"strand": true,
"transcript": "ENST00000935648.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5434,
"cdna_start": 2051,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899283.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569342.1",
"strand": true,
"transcript": "ENST00000899283.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4468,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899284.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569343.1",
"strand": true,
"transcript": "ENST00000899284.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899286.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569345.1",
"strand": true,
"transcript": "ENST00000899286.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 2267,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899287.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569346.1",
"strand": true,
"transcript": "ENST00000899287.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2173,
"cds_end": null,
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"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899289.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569348.1",
"strand": true,
"transcript": "ENST00000899289.1",
"transcript_support_level": null
},
{
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"aa_length": 473,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899290.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569349.1",
"strand": true,
"transcript": "ENST00000899290.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000899291.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569350.1",
"strand": true,
"transcript": "ENST00000899291.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 1422,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899295.1",
"gene_hgnc_id": 29520,
"gene_symbol": "GPBP1",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
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