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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: 2-177697404-GAGGAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177697404&ref=GAGGAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177697404,
"ref": "GAGGAC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000286063.11",
"consequences": [
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2268_2272delGTCCT",
"hgvs_p": "p.Ser757fs",
"transcript": "NM_016953.4",
"protein_id": "NP_058649.3",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 933,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 9305,
"mane_select": "ENST00000286063.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.2268_2272delGTCCT",
"hgvs_p": "p.Ser757fs",
"transcript": "ENST00000286063.11",
"protein_id": "ENSP00000286063.5",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 933,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 9305,
"mane_select": "NM_016953.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1518_1522delGTCCT",
"hgvs_p": "p.Ser507fs",
"transcript": "ENST00000358450.8",
"protein_id": "ENSP00000351232.4",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 683,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1194_1198delGTCCT",
"hgvs_p": "p.Ser399fs",
"transcript": "ENST00000409504.5",
"protein_id": "ENSP00000386539.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 575,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.936_940delGTCCT",
"hgvs_p": "p.Ser313fs",
"transcript": "ENST00000389683.7",
"protein_id": "ENSP00000374333.3",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 489,
"cds_start": 936,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1781,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "n.1310_1314delGTCCT",
"hgvs_p": null,
"transcript": "ENST00000497003.5",
"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": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1518_1522delGTCCT",
"hgvs_p": "p.Ser507fs",
"transcript": "NM_001077197.2",
"protein_id": "NP_001070665.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 683,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1194_1198delGTCCT",
"hgvs_p": "p.Ser399fs",
"transcript": "NM_001077358.2",
"protein_id": "NP_001070826.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 575,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.936_940delGTCCT",
"hgvs_p": "p.Ser313fs",
"transcript": "NM_001077196.2",
"protein_id": "NP_001070664.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 489,
"cds_start": 936,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"hgvs_c": "c.1089_1093delGTCCT",
"hgvs_p": "p.Ser364fs",
"transcript": "ENST00000433879.1",
"protein_id": "ENSP00000416884.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 435,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1310,
"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": "PDE11A-AS1",
"gene_hgnc_id": 40433,
"hgvs_c": "n.366-1021_366-1017delACAGG",
"hgvs_p": null,
"transcript": "ENST00000653062.1",
"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": 1506,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE11A-AS1",
"gene_hgnc_id": 40433,
"hgvs_c": "n.163-1021_163-1017delACAGG",
"hgvs_p": null,
"transcript": "ENST00000815670.1",
"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": 773,
"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": "PDE11A-AS1",
"gene_hgnc_id": 40433,
"hgvs_c": "n.126-1021_126-1017delACAGG",
"hgvs_p": null,
"transcript": "ENST00000815671.1",
"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": 1014,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE11A-AS1",
"gene_hgnc_id": 40433,
"hgvs_c": "n.105-1021_105-1017delACAGG",
"hgvs_p": null,
"transcript": "NR_136171.1",
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE11A",
"gene_hgnc_id": 8773,
"dbsnp": "rs769235876",
"frequency_reference_population": 0.00002638569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000250078,
"gnomad_genomes_af": 0.0000394161,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.841,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 1,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong",
"BS2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "ENST00000286063.11",
"gene_symbol": "PDE11A",
"hgnc_id": 8773,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2268_2272delGTCCT",
"hgvs_p": "p.Ser757fs"
},
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_136171.1",
"gene_symbol": "PDE11A-AS1",
"hgnc_id": 40433,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105-1021_105-1017delACAGG",
"hgvs_p": null
}
],
"clinvar_disease": " 2, primary,Pigmented nodular adrenocortical disease",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Pigmented nodular adrenocortical disease, primary, 2",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}