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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: 19-10467167-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10467167&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10467167,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000380702.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2207C>A",
"hgvs_p": "p.Ala736Glu",
"transcript": "NM_001111307.2",
"protein_id": "NP_001104777.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 886,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": "ENST00000380702.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2207C>A",
"hgvs_p": "p.Ala736Glu",
"transcript": "ENST00000380702.7",
"protein_id": "ENSP00000370078.3",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 886,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": "NM_001111307.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2141C>A",
"hgvs_p": "p.Ala714Glu",
"transcript": "ENST00000592685.5",
"protein_id": "ENSP00000468507.1",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 864,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2129C>A",
"hgvs_p": "p.Ala710Glu",
"transcript": "ENST00000293683.9",
"protein_id": "ENSP00000293683.4",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 860,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2024C>A",
"hgvs_p": "p.Ala675Glu",
"transcript": "ENST00000440014.6",
"protein_id": "ENSP00000394754.1",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 825,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1490C>A",
"hgvs_p": "p.Ala497Glu",
"transcript": "ENST00000344979.7",
"protein_id": "ENSP00000341007.2",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 647,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2579,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.1571C>A",
"hgvs_p": null,
"transcript": "ENST00000590407.1",
"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": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2141C>A",
"hgvs_p": "p.Ala714Glu",
"transcript": "NM_001243121.2",
"protein_id": "NP_001230050.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 864,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2129C>A",
"hgvs_p": "p.Ala710Glu",
"transcript": "NM_001111308.1",
"protein_id": "NP_001104778.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 860,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2024C>A",
"hgvs_p": "p.Ala675Glu",
"transcript": "NM_001111309.1",
"protein_id": "NP_001104779.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 825,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1490C>A",
"hgvs_p": "p.Ala497Glu",
"transcript": "NM_006202.3",
"protein_id": "NP_006193.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 647,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2204C>A",
"hgvs_p": "p.Ala735Glu",
"transcript": "XM_017026865.3",
"protein_id": "XP_016882354.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 885,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2138C>A",
"hgvs_p": "p.Ala713Glu",
"transcript": "XM_047438910.1",
"protein_id": "XP_047294866.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 863,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2126C>A",
"hgvs_p": "p.Ala709Glu",
"transcript": "XM_047438911.1",
"protein_id": "XP_047294867.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 859,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.2021C>A",
"hgvs_p": "p.Ala674Glu",
"transcript": "XM_047438912.1",
"protein_id": "XP_047294868.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 824,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.1295C>A",
"hgvs_p": "p.Ala432Glu",
"transcript": "XM_047438915.1",
"protein_id": "XP_047294871.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 582,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 3887,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.*907C>A",
"hgvs_p": null,
"transcript": "ENST00000589073.1",
"protein_id": "ENSP00000465792.1",
"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": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "n.*907C>A",
"hgvs_p": null,
"transcript": "ENST00000589073.1",
"protein_id": "ENSP00000465792.1",
"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": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.*267C>A",
"hgvs_p": null,
"transcript": "XM_011528055.4",
"protein_id": "XP_011526357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.*267C>A",
"hgvs_p": null,
"transcript": "XM_047438913.1",
"protein_id": "XP_047294869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"hgvs_c": "c.*267C>A",
"hgvs_p": null,
"transcript": "XM_047438914.1",
"protein_id": "XP_047294870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": -4,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE4A",
"gene_hgnc_id": 8780,
"dbsnp": "rs1051738",
"frequency_reference_population": 0.18126252,
"hom_count_reference_population": 27859,
"allele_count_reference_population": 292549,
"gnomad_exomes_af": 0.179076,
"gnomad_genomes_af": 0.202269,
"gnomad_exomes_ac": 261775,
"gnomad_genomes_ac": 30774,
"gnomad_exomes_homalt": 24426,
"gnomad_genomes_homalt": 3433,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004976451396942139,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.486,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380702.7",
"gene_symbol": "PDE4A",
"hgnc_id": 8780,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2207C>A",
"hgvs_p": "p.Ala736Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}