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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: 16-58166713-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58166713&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CSNK2A2",
"hgnc_id": 2459,
"hgvs_c": "c.727-29T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_001896.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_score": -18,
"allele_count_reference_population": 122464,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.1899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001896.4",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.727-29T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262506.8",
"protein_coding": true,
"protein_id": "NP_001887.1",
"strand": false,
"transcript": "NM_001896.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262506.8",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.727-29T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001896.4",
"protein_coding": true,
"protein_id": "ENSP00000262506.3",
"strand": false,
"transcript": "ENST00000262506.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952604.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.766-29T>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622663.1",
"strand": false,
"transcript": "ENST00000952604.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931140.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.727-29T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601199.1",
"strand": false,
"transcript": "ENST00000931140.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931142.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.727-29T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601201.1",
"strand": false,
"transcript": "ENST00000931142.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931138.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.715-29T>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601197.1",
"strand": false,
"transcript": "ENST00000931138.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931139.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.667-29T>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601198.1",
"strand": false,
"transcript": "ENST00000931139.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931144.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.667-29T>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601203.1",
"strand": false,
"transcript": "ENST00000931144.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000931145.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.643-29T>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601204.1",
"strand": false,
"transcript": "ENST00000931145.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000952600.1",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.643-29T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622659.1",
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"transcript": "ENST00000952600.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000565188.2",
"gene_hgnc_id": 2459,
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"protein_id": "ENSP00000454874.2",
"strand": false,
"transcript": "ENST00000565188.2",
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},
{
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],
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"feature": "ENST00000931141.1",
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"protein_id": "ENSP00000601200.1",
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},
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],
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"feature": "ENST00000931143.1",
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"strand": false,
"transcript": "ENST00000931143.1",
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},
{
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],
"exon_count": 9,
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"feature": "ENST00000952603.1",
"gene_hgnc_id": 2459,
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"hgvs_c": "c.514-29T>G",
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},
{
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"feature": "ENST00000867095.1",
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"protein_coding": true,
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"transcript": "ENST00000867095.1",
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},
{
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],
"exon_count": 9,
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"feature": "ENST00000952601.1",
"gene_hgnc_id": 2459,
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"hgvs_c": "c.490-29T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622660.1",
"strand": false,
"transcript": "ENST00000952601.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000952602.1",
"gene_hgnc_id": 2459,
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},
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"transcript": "ENST00000567730.6",
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},
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],
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"feature": "XM_047433626.1",
"gene_hgnc_id": 2459,
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},
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"consequences": [
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],
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"feature": "XM_017022945.2",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.403-29T>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016878434.1",
"strand": false,
"transcript": "XM_017022945.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_005255801.4",
"gene_hgnc_id": 2459,
"gene_symbol": "CSNK2A2",
"hgvs_c": "c.316-29T>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005255858.1",
"strand": false,
"transcript": "XM_005255801.4",
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},
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