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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: 14-29599730-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=29599730&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 29599730,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000331968.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Asp665Asn",
"transcript": "NM_002742.3",
"protein_id": "NP_002733.2",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 912,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": "ENST00000331968.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Asp665Asn",
"transcript": "ENST00000331968.11",
"protein_id": "ENSP00000333568.6",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 912,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": "NM_002742.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "NM_001330069.2",
"protein_id": "NP_001316998.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 920,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Asp673Asn",
"transcript": "ENST00000415220.6",
"protein_id": "ENSP00000390535.2",
"transcript_support_level": 5,
"aa_start": 673,
"aa_end": null,
"aa_length": 920,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Asp577Asn",
"transcript": "NM_001348390.1",
"protein_id": "NP_001335319.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 824,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Asp589Asn",
"transcript": "XM_047431589.1",
"protein_id": "XP_047287545.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 836,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Asp577Asn",
"transcript": "XM_011536965.3",
"protein_id": "XP_011535267.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 824,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 10520,
"cdna_end": null,
"cdna_length": 12025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Asp508Asn",
"transcript": "XM_047431590.1",
"protein_id": "XP_047287546.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 755,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.1764G>A",
"hgvs_p": null,
"transcript": "ENST00000616995.5",
"protein_id": null,
"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": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.*1658G>A",
"hgvs_p": null,
"transcript": "ENST00000651571.1",
"protein_id": "ENSP00000498919.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.*1397G>A",
"hgvs_p": null,
"transcript": "ENST00000651616.1",
"protein_id": "ENSP00000498661.1",
"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": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.1277G>A",
"hgvs_p": null,
"transcript": "ENST00000691517.1",
"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": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.2352G>A",
"hgvs_p": null,
"transcript": "XR_943493.3",
"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": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.*1658G>A",
"hgvs_p": null,
"transcript": "ENST00000651571.1",
"protein_id": "ENSP00000498919.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"hgvs_c": "n.*1397G>A",
"hgvs_p": null,
"transcript": "ENST00000651616.1",
"protein_id": "ENSP00000498661.1",
"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": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKD1",
"gene_hgnc_id": 9407,
"dbsnp": "rs193921103",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9324521422386169,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000331968.11",
"gene_symbol": "PRKD1",
"hgnc_id": 9407,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Asp665Asn"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}