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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: 19-40692223-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40692223&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COQ8B",
"hgnc_id": 19041,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024876.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_score": 2,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.0933,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4929385185241699,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_024876.4",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324464.8",
"protein_coding": true,
"protein_id": "NP_079152.3",
"strand": false,
"transcript": "NM_024876.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000324464.8",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024876.4",
"protein_coding": true,
"protein_id": "ENSP00000315118.3",
"strand": false,
"transcript": "ENST00000324464.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000243583.10",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Glu442Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000243583.5",
"strand": false,
"transcript": "ENST00000243583.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 559,
"aa_ref": "E",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871658.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Glu498Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541717.1",
"strand": false,
"transcript": "ENST00000871658.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000594720.6",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470876.2",
"strand": false,
"transcript": "ENST00000594720.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000601967.6",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470916.2",
"strand": false,
"transcript": "ENST00000601967.6",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677018.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503480.1",
"strand": false,
"transcript": "ENST00000677018.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000678404.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503944.1",
"strand": false,
"transcript": "ENST00000678404.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000678419.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504085.1",
"strand": false,
"transcript": "ENST00000678419.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000678467.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504072.1",
"strand": false,
"transcript": "ENST00000678467.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000679130.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504845.1",
"strand": false,
"transcript": "ENST00000679130.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871645.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541704.1",
"strand": false,
"transcript": "ENST00000871645.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000871646.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541705.1",
"strand": false,
"transcript": "ENST00000871646.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871649.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541708.1",
"strand": false,
"transcript": "ENST00000871649.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871650.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541709.1",
"strand": false,
"transcript": "ENST00000871650.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871651.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541710.1",
"strand": false,
"transcript": "ENST00000871651.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871652.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541711.1",
"strand": false,
"transcript": "ENST00000871652.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871653.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541712.1",
"strand": false,
"transcript": "ENST00000871653.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871655.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541714.1",
"strand": false,
"transcript": "ENST00000871655.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000871661.1",
"gene_hgnc_id": 19041,
"gene_symbol": "COQ8B",
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541720.1",
"strand": false,
"transcript": "ENST00000871661.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 544,
"aa_ref": "E",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1447,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000915176.1",
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