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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: 20-63406659-G-GGCCCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63406659&ref=G&alt=GGCCCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "KCNQ2",
"hgnc_id": 6296,
"hgvs_c": "c.2653_2657dupTGGGC",
"hgvs_p": "p.Arg889fs",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_001382235.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PM2,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGCCCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " 1, benign familial neonatal,Developmental and epileptic encephalopathy,Inborn genetic diseases,Seizures,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 872,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2603,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_172107.4",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2599_2603dupTGGGC",
"hgvs_p": "p.Arg871fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359125.7",
"protein_coding": true,
"protein_id": "NP_742105.1",
"strand": false,
"transcript": "NM_172107.4",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 872,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2603,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000359125.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2599_2603dupTGGGC",
"hgvs_p": "p.Arg871fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172107.4",
"protein_coding": true,
"protein_id": "ENSP00000352035.2",
"strand": false,
"transcript": "ENST00000359125.7",
"transcript_support_level": 1
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 854,
"aa_ref": "A",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2549,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000626839.2",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2545_2549dupTGGGC",
"hgvs_p": "p.Arg853fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486706.1",
"strand": false,
"transcript": "ENST00000626839.2",
"transcript_support_level": 1
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 841,
"aa_ref": "A",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2510,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000344462.8",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2506_2510dupTGGGC",
"hgvs_p": "p.Arg840fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339611.4",
"strand": false,
"transcript": "ENST00000344462.8",
"transcript_support_level": 1
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2657,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001382235.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2653_2657dupTGGGC",
"hgvs_p": "p.Arg889fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369164.1",
"strand": false,
"transcript": "NM_001382235.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9301,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2657,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000706989.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2653_2657dupTGGGC",
"hgvs_p": "p.Arg889fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516702.1",
"strand": false,
"transcript": "ENST00000706989.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 858,
"aa_ref": "A",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2561,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852160.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2557_2561dupTGGGC",
"hgvs_p": "p.Arg857fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522219.1",
"strand": false,
"transcript": "ENST00000852160.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 858,
"aa_ref": "A",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9209,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2561,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921679.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2557_2561dupTGGGC",
"hgvs_p": "p.Arg857fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591738.1",
"strand": false,
"transcript": "ENST00000921679.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 854,
"aa_ref": "A",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9193,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2549,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_172106.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2545_2549dupTGGGC",
"hgvs_p": "p.Arg853fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742104.1",
"strand": false,
"transcript": "NM_172106.3",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9190,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2546,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001439003.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2542_2546dupTGGGC",
"hgvs_p": "p.Arg852fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425932.1",
"strand": false,
"transcript": "NM_001439003.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2546,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852159.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2542_2546dupTGGGC",
"hgvs_p": "p.Arg852fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522218.1",
"strand": false,
"transcript": "ENST00000852159.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 844,
"aa_ref": "A",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9163,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2519,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004518.6",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2515_2519dupTGGGC",
"hgvs_p": "p.Arg843fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004509.2",
"strand": false,
"transcript": "NM_004518.6",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 844,
"aa_ref": "A",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2519,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000360480.7",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2515_2519dupTGGGC",
"hgvs_p": "p.Arg843fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353668.3",
"strand": false,
"transcript": "ENST00000360480.7",
"transcript_support_level": 5
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 843,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2516,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001439004.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2512_2516dupTGGGC",
"hgvs_p": "p.Arg842fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425933.1",
"strand": false,
"transcript": "NM_001439004.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 843,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2516,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000627221.3",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2512_2516dupTGGGC",
"hgvs_p": "p.Arg842fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487469.2",
"strand": false,
"transcript": "ENST00000627221.3",
"transcript_support_level": 5
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 841,
"aa_ref": "A",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9154,
"cdna_start": 2702,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2510,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_172108.5",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2506_2510dupTGGGC",
"hgvs_p": "p.Arg840fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742106.1",
"strand": false,
"transcript": "NM_172108.5",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 832,
"aa_ref": "A",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2483,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713605.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2479_2483dupTGGGC",
"hgvs_p": "p.Arg831fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518901.1",
"strand": false,
"transcript": "ENST00000713605.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 802,
"aa_ref": "A",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2607,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2393,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000921680.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2389_2393dupTGGGC",
"hgvs_p": "p.Arg801fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591739.1",
"strand": false,
"transcript": "ENST00000921680.1",
"transcript_support_level": null
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 728,
"aa_ref": "A",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2171,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000357249.6",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.2167_2171dupTGGGC",
"hgvs_p": "p.Arg727fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349789.3",
"strand": false,
"transcript": "ENST00000357249.6",
"transcript_support_level": 5
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2016,
"cds_start": 2000,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000637193.1",
"gene_hgnc_id": 6296,
"gene_symbol": "KCNQ2",
"hgvs_c": "c.1996_2000dupTGGGC",
"hgvs_p": "p.Arg670fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490734.1",
"strand": false,
"transcript": "ENST00000637193.1",
"transcript_support_level": 5
},
{
"aa_alt": "AG?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8243,
"cdna_start": 1791,
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