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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: 1-233204408-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=233204408&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 233204408,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000258229.14",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2863+4110T>A",
"hgvs_p": null,
"transcript": "NM_014801.4",
"protein_id": "NP_055616.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7530,
"mane_select": "ENST00000258229.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2863+4110T>A",
"hgvs_p": null,
"transcript": "ENST00000258229.14",
"protein_id": "ENSP00000258229.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7530,
"mane_select": "NM_014801.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "n.*353+4110T>A",
"hgvs_p": null,
"transcript": "ENST00000475463.6",
"protein_id": "ENSP00000429360.1",
"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": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.262+4110T>A",
"hgvs_p": null,
"transcript": "ENST00000488780.6",
"protein_id": "ENSP00000430820.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.370+4110T>A",
"hgvs_p": null,
"transcript": "ENST00000518351.2",
"protein_id": "ENSP00000429231.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "n.1070-2158T>A",
"hgvs_p": null,
"transcript": "ENST00000324142.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "n.*48+4110T>A",
"hgvs_p": null,
"transcript": "ENST00000517808.1",
"protein_id": "ENSP00000429262.1",
"transcript_support_level": 5,
"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": 307,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298828",
"gene_hgnc_id": null,
"hgvs_c": "n.181-1907A>T",
"hgvs_p": null,
"transcript": "ENST00000758188.1",
"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,
"cdna_end": null,
"cdna_length": 372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2614+4110T>A",
"hgvs_p": null,
"transcript": "XM_047430870.1",
"protein_id": "XP_047286826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2054,
"cds_start": -4,
"cds_end": null,
"cds_length": 6165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2254+4110T>A",
"hgvs_p": null,
"transcript": "XM_047430871.1",
"protein_id": "XP_047286827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1934,
"cds_start": -4,
"cds_end": null,
"cds_length": 5805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2863+4110T>A",
"hgvs_p": null,
"transcript": "XM_047430872.1",
"protein_id": "XP_047286828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": -4,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.637+4110T>A",
"hgvs_p": null,
"transcript": "XM_011544278.3",
"protein_id": "XP_011542580.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "c.2863+4110T>A",
"hgvs_p": null,
"transcript": "XM_006711816.4",
"protein_id": "XP_006711879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1364,
"cds_start": -4,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"hgvs_c": "n.3110+4110T>A",
"hgvs_p": null,
"transcript": "XR_001737430.2",
"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,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCNX2",
"gene_hgnc_id": 8736,
"dbsnp": "rs12027542",
"frequency_reference_population": 0.000006573066,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.707,
"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": "ENST00000258229.14",
"gene_symbol": "PCNX2",
"hgnc_id": 8736,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2863+4110T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000758188.1",
"gene_symbol": "ENSG00000298828",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.181-1907A>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
}