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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: 19-14446511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14446511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14446511,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_213560.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "NM_002741.5",
"protein_id": "NP_002732.3",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 942,
"cds_start": 560,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242783.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002741.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000242783.11",
"protein_id": "ENSP00000242783.7",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 942,
"cds_start": 560,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002741.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242783.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000900936.1",
"protein_id": "ENSP00000570995.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 976,
"cds_start": 560,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900936.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"transcript": "NM_213560.3",
"protein_id": "NP_998725.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 948,
"cds_start": 578,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213560.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val",
"transcript": "ENST00000342216.8",
"protein_id": "ENSP00000343325.4",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 948,
"cds_start": 578,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342216.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000934915.1",
"protein_id": "ENSP00000604974.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 940,
"cds_start": 560,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934915.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000944772.1",
"protein_id": "ENSP00000614831.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 928,
"cds_start": 560,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944772.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000934914.1",
"protein_id": "ENSP00000604973.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 921,
"cds_start": 560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934914.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000944773.1",
"protein_id": "ENSP00000614832.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 914,
"cds_start": 560,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944773.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000944774.1",
"protein_id": "ENSP00000614833.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 886,
"cds_start": 560,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944774.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000944771.1",
"protein_id": "ENSP00000614830.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 877,
"cds_start": 560,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944771.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "ENST00000934913.1",
"protein_id": "ENSP00000604972.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 757,
"cds_start": 560,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934913.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "ENST00000590097.5",
"protein_id": "ENSP00000466367.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 262,
"cds_start": 596,
"cds_end": null,
"cds_length": 790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590097.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Ala199Val",
"transcript": "ENST00000586557.5",
"protein_id": "ENSP00000465842.1",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 254,
"cds_start": 596,
"cds_end": null,
"cds_length": 767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586557.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "n.759C>T",
"hgvs_p": null,
"transcript": "ENST00000585839.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585839.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "c.*75C>T",
"hgvs_p": null,
"transcript": "ENST00000585619.5",
"protein_id": "ENSP00000467422.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 44,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585619.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"hgvs_c": "n.*53C>T",
"hgvs_p": null,
"transcript": "ENST00000587429.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000587429.1"
}
],
"gene_symbol": "PKN1",
"gene_hgnc_id": 9405,
"dbsnp": "rs759249010",
"frequency_reference_population": 0.000009296929,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889686,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23114222288131714,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.1566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.186,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_213560.3",
"gene_symbol": "PKN1",
"hgnc_id": 9405,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ala193Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}