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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: 1-181579652-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=181579652&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 181579652,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000367573.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "NM_001205293.3",
"protein_id": "NP_001192222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2313,
"cds_start": -4,
"cds_end": null,
"cds_length": 6942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16420,
"mane_select": "ENST00000367573.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "ENST00000367573.7",
"protein_id": "ENSP00000356545.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2313,
"cds_start": -4,
"cds_end": null,
"cds_length": 6942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16420,
"mane_select": "NM_001205293.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "ENST00000360108.7",
"protein_id": "ENSP00000353222.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2294,
"cds_start": -4,
"cds_end": null,
"cds_length": 6885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "ENST00000367570.6",
"protein_id": "ENSP00000356542.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2270,
"cds_start": -4,
"cds_end": null,
"cds_length": 6813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "ENST00000621791.4",
"protein_id": "ENSP00000481619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2251,
"cds_start": -4,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
"hgvs_p": null,
"transcript": "ENST00000524607.6",
"protein_id": "ENSP00000432038.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "n.1203+428G>T",
"hgvs_p": null,
"transcript": "ENST00000533229.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "NM_000721.4",
"protein_id": "NP_000712.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2270,
"cds_start": -4,
"cds_end": null,
"cds_length": 6813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.769+428G>T",
"hgvs_p": null,
"transcript": "NM_001205294.2",
"protein_id": "NP_001192223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2251,
"cds_start": -4,
"cds_end": null,
"cds_length": 6756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "n.751+428G>T",
"hgvs_p": null,
"transcript": "ENST00000700187.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2056,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
"hgvs_p": null,
"transcript": "XM_017002243.2",
"protein_id": "XP_016857732.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2458,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 50,
"intron_rank": 7,
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002244.2",
"protein_id": "XP_016857733.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 50,
"intron_rank": 7,
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002251.1",
"protein_id": "XP_016857740.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 49,
"intron_rank": 7,
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"gene_symbol": "CACNA1E",
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"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002245.2",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002246.2",
"protein_id": "XP_016857735.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002247.2",
"protein_id": "XP_016857736.1",
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],
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"intron_rank": 7,
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002248.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 48,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
"hgvs_p": null,
"transcript": "XM_047429979.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "CACNA1E",
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"hgvs_c": "c.1204+428G>T",
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"transcript": "XM_017002249.2",
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},
{
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],
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"gene_symbol": "CACNA1E",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 7,
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"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"hgvs_c": "c.1204+428G>T",
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"feature": null
}
],
"gene_symbol": "CACNA1E",
"gene_hgnc_id": 1392,
"dbsnp": "rs3856090",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.445,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367573.7",
"gene_symbol": "CACNA1E",
"hgnc_id": 1392,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.769+428G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}