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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: 19-14097661-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14097661&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14097661,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000308677.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Gly187Val",
"transcript": "NM_002730.4",
"protein_id": "NP_002721.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 351,
"cds_start": 560,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": "ENST00000308677.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Gly187Val",
"transcript": "ENST00000308677.9",
"protein_id": "ENSP00000309591.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 351,
"cds_start": 560,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": "NM_002730.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Gly263Val",
"transcript": "NM_001304349.2",
"protein_id": "NP_001291278.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 427,
"cds_start": 788,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Gly263Val",
"transcript": "ENST00000350356.7",
"protein_id": "ENSP00000513361.1",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 427,
"cds_start": 788,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Gly179Val",
"transcript": "NM_207518.3",
"protein_id": "NP_997401.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 343,
"cds_start": 536,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.536G>T",
"hgvs_p": "p.Gly179Val",
"transcript": "ENST00000589994.6",
"protein_id": "ENSP00000466651.1",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 343,
"cds_start": 536,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.386G>T",
"hgvs_p": "p.Gly129Val",
"transcript": "ENST00000677951.1",
"protein_id": "ENSP00000504551.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 293,
"cds_start": 386,
"cds_end": null,
"cds_length": 882,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000587372.5",
"protein_id": "ENSP00000468352.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 250,
"cds_start": 422,
"cds_end": null,
"cds_length": 753,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.386G>T",
"hgvs_p": "p.Gly129Val",
"transcript": "ENST00000536649.5",
"protein_id": "ENSP00000503953.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Gly170Val",
"transcript": "ENST00000593092.1",
"protein_id": "ENSP00000466289.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 207,
"cds_start": 509,
"cds_end": null,
"cds_length": 624,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 922,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "n.805G>T",
"hgvs_p": null,
"transcript": "ENST00000587533.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2095,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "n.594G>T",
"hgvs_p": null,
"transcript": "ENST00000588209.5",
"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": 942,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "n.*138G>T",
"hgvs_p": null,
"transcript": "ENST00000677971.1",
"protein_id": "ENSP00000502958.1",
"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": 3996,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "n.761G>T",
"hgvs_p": null,
"transcript": "ENST00000679067.1",
"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": 2171,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "n.*138G>T",
"hgvs_p": null,
"transcript": "ENST00000677971.1",
"protein_id": "ENSP00000502958.1",
"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": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"hgvs_c": "c.109-4818G>T",
"hgvs_p": null,
"transcript": "ENST00000590853.5",
"protein_id": "ENSP00000466976.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1101,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295841",
"gene_hgnc_id": null,
"hgvs_c": "n.402-5032C>A",
"hgvs_p": null,
"transcript": "ENST00000732936.1",
"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": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKACA",
"gene_hgnc_id": 9380,
"dbsnp": "rs11541563",
"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": 0.9914406538009644,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.75,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.707,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000308677.9",
"gene_symbol": "PRKACA",
"hgnc_id": 9380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Gly187Val"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000732936.1",
"gene_symbol": "ENSG00000295841",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.402-5032C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}