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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: 7-90747697-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90747697&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90747697,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001287135.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.386T>A",
"hgvs_p": "p.Phe129Tyr",
"transcript": "NM_001287135.2",
"protein_id": "NP_001274064.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 469,
"cds_start": 386,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": "ENST00000380050.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.386T>A",
"hgvs_p": "p.Phe129Tyr",
"transcript": "ENST00000380050.8",
"protein_id": "ENSP00000369390.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 469,
"cds_start": 386,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": "NM_001287135.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Phe111Tyr",
"transcript": "ENST00000265741.7",
"protein_id": "ENSP00000265741.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 451,
"cds_start": 332,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000406263.5",
"protein_id": "ENSP00000385034.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 423,
"cds_start": 248,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000430760.5",
"protein_id": "ENSP00000394570.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 126,
"cds_start": 248,
"cds_end": null,
"cds_length": 382,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000449528.5",
"protein_id": "ENSP00000393616.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 126,
"cds_start": 248,
"cds_end": null,
"cds_length": 382,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000456689.5",
"protein_id": "ENSP00000406848.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 126,
"cds_start": 248,
"cds_end": null,
"cds_length": 382,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000446224.5",
"protein_id": "ENSP00000410770.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 126,
"cds_start": 248,
"cds_end": null,
"cds_length": 381,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 590,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.123-42876T>A",
"hgvs_p": null,
"transcript": "ENST00000484035.5",
"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": 175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.332T>A",
"hgvs_p": "p.Phe111Tyr",
"transcript": "NM_012395.3",
"protein_id": "NP_036527.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 451,
"cds_start": 332,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "NM_001287136.1",
"protein_id": "NP_001274065.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 423,
"cds_start": 248,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.248T>A",
"hgvs_p": "p.Phe83Tyr",
"transcript": "ENST00000446790.5",
"protein_id": "ENSP00000401603.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 91,
"cds_start": 248,
"cds_end": null,
"cds_length": 276,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.326T>A",
"hgvs_p": null,
"transcript": "ENST00000478540.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 446,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.77+20885T>A",
"hgvs_p": null,
"transcript": "NM_001287137.1",
"protein_id": "NP_001274066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4788,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.77+20885T>A",
"hgvs_p": null,
"transcript": "ENST00000436577.3",
"protein_id": "ENSP00000398936.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4787,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.231+20885T>A",
"hgvs_p": null,
"transcript": "ENST00000431029.5",
"protein_id": "ENSP00000387794.1",
"transcript_support_level": 3,
"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": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"dbsnp": "rs767194171",
"frequency_reference_population": 0.0000020761734,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000207617,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4624408185482025,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.661,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287135.2",
"gene_symbol": "CDK14",
"hgnc_id": 8883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.386T>A",
"hgvs_p": "p.Phe129Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}