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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: 7-90790574-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90790574&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90790574,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001287135.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Ile",
"transcript": "NM_001287135.2",
"protein_id": "NP_001274064.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 469,
"cds_start": 466,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": "ENST00000380050.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Ile",
"transcript": "ENST00000380050.8",
"protein_id": "ENSP00000369390.3",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 469,
"cds_start": 466,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": "NM_001287135.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Ile",
"transcript": "ENST00000265741.7",
"protein_id": "ENSP00000265741.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 451,
"cds_start": 412,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000406263.5",
"protein_id": "ENSP00000385034.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 423,
"cds_start": 328,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000430760.5",
"protein_id": "ENSP00000394570.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 126,
"cds_start": 328,
"cds_end": null,
"cds_length": 382,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000449528.5",
"protein_id": "ENSP00000393616.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 126,
"cds_start": 328,
"cds_end": null,
"cds_length": 382,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000456689.5",
"protein_id": "ENSP00000406848.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 126,
"cds_start": 328,
"cds_end": null,
"cds_length": 382,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000446224.5",
"protein_id": "ENSP00000410770.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 126,
"cds_start": 328,
"cds_end": null,
"cds_length": 381,
"cdna_start": 537,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.124G>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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Ile",
"transcript": "NM_012395.3",
"protein_id": "NP_036527.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 451,
"cds_start": 412,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "NM_001287136.1",
"protein_id": "NP_001274065.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 423,
"cds_start": 328,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Val27Ile",
"transcript": "NM_001287137.1",
"protein_id": "NP_001274066.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 340,
"cds_start": 79,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Val27Ile",
"transcript": "ENST00000436577.3",
"protein_id": "ENSP00000398936.2",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 340,
"cds_start": 79,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 390,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.233G>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "n.406G>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
}
],
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"dbsnp": "rs751932807",
"frequency_reference_population": 0.000006183884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000618388,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.259240984916687,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7300000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.1503,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.62,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.986880762285427,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001287135.2",
"gene_symbol": "CDK14",
"hgnc_id": 8883,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Ile"
}
],
"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
}