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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: 1-181790521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=181790521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 181790521,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367573.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5863G>A",
"hgvs_p": "p.Ala1955Thr",
"transcript": "NM_001205293.3",
"protein_id": "NP_001192222.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2313,
"cds_start": 5863,
"cds_end": null,
"cds_length": 6942,
"cdna_start": 6091,
"cdna_end": null,
"cdna_length": 16420,
"mane_select": "ENST00000367573.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5863G>A",
"hgvs_p": "p.Ala1955Thr",
"transcript": "ENST00000367573.7",
"protein_id": "ENSP00000356545.2",
"transcript_support_level": 1,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2313,
"cds_start": 5863,
"cds_end": null,
"cds_length": 6942,
"cdna_start": 6091,
"cdna_end": null,
"cdna_length": 16420,
"mane_select": "NM_001205293.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5806G>A",
"hgvs_p": "p.Ala1936Thr",
"transcript": "ENST00000360108.7",
"protein_id": "ENSP00000353222.3",
"transcript_support_level": 5,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2294,
"cds_start": 5806,
"cds_end": null,
"cds_length": 6885,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 6970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5863G>A",
"hgvs_p": "p.Ala1955Thr",
"transcript": "ENST00000367570.6",
"protein_id": "ENSP00000356542.1",
"transcript_support_level": 1,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2270,
"cds_start": 5863,
"cds_end": null,
"cds_length": 6813,
"cdna_start": 6754,
"cdna_end": null,
"cdna_length": 10450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5806G>A",
"hgvs_p": "p.Ala1936Thr",
"transcript": "ENST00000621791.4",
"protein_id": "ENSP00000481619.1",
"transcript_support_level": 1,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5806,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 5971,
"cdna_end": null,
"cdna_length": 16171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5863G>A",
"hgvs_p": "p.Ala1955Thr",
"transcript": "NM_000721.4",
"protein_id": "NP_000712.2",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2270,
"cds_start": 5863,
"cds_end": null,
"cds_length": 6813,
"cdna_start": 6091,
"cdna_end": null,
"cdna_length": 16291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.5806G>A",
"hgvs_p": "p.Ala1936Thr",
"transcript": "NM_001205294.2",
"protein_id": "NP_001192223.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5806,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 6034,
"cdna_end": null,
"cdna_length": 16234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6298G>A",
"hgvs_p": "p.Ala2100Thr",
"transcript": "XM_017002243.2",
"protein_id": "XP_016857732.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6298,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 6737,
"cdna_end": null,
"cdna_length": 17066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6298G>A",
"hgvs_p": "p.Ala2100Thr",
"transcript": "XM_017002244.2",
"protein_id": "XP_016857733.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6298,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 6737,
"cdna_end": null,
"cdna_length": 17066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6298G>A",
"hgvs_p": "p.Ala2100Thr",
"transcript": "XM_017002251.1",
"protein_id": "XP_016857740.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6298,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 6381,
"cdna_end": null,
"cdna_length": 16710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6286G>A",
"hgvs_p": "p.Ala2096Thr",
"transcript": "XM_017002245.2",
"protein_id": "XP_016857734.1",
"transcript_support_level": null,
"aa_start": 2096,
"aa_end": null,
"aa_length": 2454,
"cds_start": 6286,
"cds_end": null,
"cds_length": 7365,
"cdna_start": 6725,
"cdna_end": null,
"cdna_length": 17054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6286G>A",
"hgvs_p": "p.Ala2096Thr",
"transcript": "XM_017002246.2",
"protein_id": "XP_016857735.1",
"transcript_support_level": null,
"aa_start": 2096,
"aa_end": null,
"aa_length": 2454,
"cds_start": 6286,
"cds_end": null,
"cds_length": 7365,
"cdna_start": 6725,
"cdna_end": null,
"cdna_length": 17054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6241G>A",
"hgvs_p": "p.Ala2081Thr",
"transcript": "XM_017002247.2",
"protein_id": "XP_016857736.1",
"transcript_support_level": null,
"aa_start": 2081,
"aa_end": null,
"aa_length": 2439,
"cds_start": 6241,
"cds_end": null,
"cds_length": 7320,
"cdna_start": 6680,
"cdna_end": null,
"cdna_length": 17009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6232G>A",
"hgvs_p": "p.Ala2078Thr",
"transcript": "XM_017002248.2",
"protein_id": "XP_016857737.1",
"transcript_support_level": null,
"aa_start": 2078,
"aa_end": null,
"aa_length": 2436,
"cds_start": 6232,
"cds_end": null,
"cds_length": 7311,
"cdna_start": 6671,
"cdna_end": null,
"cdna_length": 17000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6229G>A",
"hgvs_p": "p.Ala2077Thr",
"transcript": "XM_047429979.1",
"protein_id": "XP_047285935.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2435,
"cds_start": 6229,
"cds_end": null,
"cds_length": 7308,
"cdna_start": 6668,
"cdna_end": null,
"cdna_length": 16997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6298G>A",
"hgvs_p": "p.Ala2100Thr",
"transcript": "XM_017002249.2",
"protein_id": "XP_016857738.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6298,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6737,
"cdna_end": null,
"cdna_length": 16937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.6241G>A",
"hgvs_p": "p.Ala2081Thr",
"transcript": "XM_017002250.2",
"protein_id": "XP_016857739.1",
"transcript_support_level": null,
"aa_start": 2081,
"aa_end": null,
"aa_length": 2396,
"cds_start": 6241,
"cds_end": null,
"cds_length": 7191,
"cdna_start": 6680,
"cdna_end": null,
"cdna_length": 16880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"dbsnp": "rs704326",
"frequency_reference_population": 0.4256138,
"hom_count_reference_population": 152777,
"allele_count_reference_population": 684690,
"gnomad_exomes_af": 0.432791,
"gnomad_genomes_af": 0.356807,
"gnomad_exomes_ac": 630471,
"gnomad_genomes_ac": 54219,
"gnomad_exomes_homalt": 141627,
"gnomad_genomes_homalt": 11150,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00013509392738342285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.0666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.366,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367573.7",
"gene_symbol": "CACNA1E",
"hgnc_id": 1392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5863G>A",
"hgvs_p": "p.Ala1955Thr"
}
],
"clinvar_disease": " 69,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 69",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}