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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: 14-73958230-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73958230&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COQ6",
"hgnc_id": 20233,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_182476.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ENTPD5",
"hgnc_id": 3367,
"hgvs_c": "c.*1300C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001330189.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1581,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26682937145233154,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 468,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1407,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_182476.3",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334571.7",
"protein_coding": true,
"protein_id": "NP_872282.1",
"strand": true,
"transcript": "NM_182476.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 468,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1407,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000334571.7",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182476.3",
"protein_coding": true,
"protein_id": "ENSP00000333946.2",
"strand": true,
"transcript": "ENST00000334571.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554341.6",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "n.*170G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450736.2",
"strand": true,
"transcript": "ENST00000554341.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000556300.6",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "n.599G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000556300.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554341.6",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "n.*170G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450736.2",
"strand": true,
"transcript": "ENST00000554341.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1404,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963229.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633288.1",
"strand": true,
"transcript": "ENST00000963229.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 452,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1504,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1359,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901628.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Val173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571687.1",
"strand": true,
"transcript": "ENST00000901628.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1332,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001425255.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412184.1",
"strand": true,
"transcript": "NM_001425255.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1332,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_182480.3",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872286.2",
"strand": true,
"transcript": "NM_182480.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1332,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394026.8",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377594.4",
"strand": true,
"transcript": "ENST00000394026.8",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 435,
"aa_ref": "V",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1308,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901627.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571686.1",
"strand": true,
"transcript": "ENST00000901627.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 432,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1299,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001425256.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412185.1",
"strand": true,
"transcript": "NM_001425256.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1272,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963230.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633289.1",
"strand": true,
"transcript": "ENST00000963230.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 413,
"aa_ref": "V",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1242,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001425257.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Val134Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412186.1",
"strand": true,
"transcript": "NM_001425257.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 407,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1224,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001425258.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412187.1",
"strand": true,
"transcript": "NM_001425258.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 407,
"aa_ref": "V",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1224,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901629.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Val128Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571688.1",
"strand": true,
"transcript": "ENST00000901629.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 399,
"aa_ref": "V",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1200,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963231.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633290.1",
"strand": true,
"transcript": "ENST00000963231.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 393,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1182,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001425259.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412188.1",
"strand": true,
"transcript": "NM_001425259.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 393,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1182,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001425260.1",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412189.1",
"strand": true,
"transcript": "NM_001425260.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 393,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1182,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000629426.2",
"gene_hgnc_id": 20233,
"gene_symbol": "COQ6",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486650.1",
"strand": true,
"transcript": "ENST00000629426.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 391,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1176,
"cds_start": 340,
"consequences": [
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