← Back to variant description
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: 19-19680067-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19680067&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19680067,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000592502.2",
"consequences": [
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.1080_1081delTA",
"hgvs_p": "p.His360fs",
"transcript": "NM_033204.4",
"protein_id": "NP_149981.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 436,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "ENST00000592502.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.1080_1081delTA",
"hgvs_p": "p.His360fs",
"transcript": "ENST00000592502.2",
"protein_id": "ENSP00000468049.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 436,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "NM_033204.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.720_721delTA",
"hgvs_p": "p.His240fs",
"transcript": "ENST00000415784.6",
"protein_id": "ENSP00000400952.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 316,
"cds_start": 720,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.720_721delTA",
"hgvs_p": "p.His240fs",
"transcript": "NM_001300949.2",
"protein_id": "NP_001287878.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 316,
"cds_start": 720,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.1179_1180delTA",
"hgvs_p": "p.His393fs",
"transcript": "XM_047439722.1",
"protein_id": "XP_047295678.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 469,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.720_721delTA",
"hgvs_p": "p.His240fs",
"transcript": "XM_024451785.2",
"protein_id": "XP_024307553.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 316,
"cds_start": 720,
"cds_end": null,
"cds_length": 951,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 5626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "HS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.720_721delTA",
"hgvs_p": "p.His240fs",
"transcript": "XM_047439723.1",
"protein_id": "XP_047295679.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 316,
"cds_start": 720,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 4569,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "n.1080_1081delTA",
"hgvs_p": null,
"transcript": "ENST00000318110.9",
"protein_id": "ENSP00000319716.5",
"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": 1830,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "n.210_211delTA",
"hgvs_p": null,
"transcript": "ENST00000585565.1",
"protein_id": "ENSP00000466744.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "c.*889_*890delAT",
"hgvs_p": null,
"transcript": "ENST00000444249.6",
"protein_id": "ENSP00000466697.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"hgvs_c": "n.*36_*37delAT",
"hgvs_p": null,
"transcript": "ENST00000415440.3",
"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": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF101",
"gene_hgnc_id": 12881,
"dbsnp": "rs34704748",
"frequency_reference_population": 0.02853645,
"hom_count_reference_population": 804,
"allele_count_reference_population": 46060,
"gnomad_exomes_af": 0.0293531,
"gnomad_genomes_af": 0.020694,
"gnomad_exomes_ac": 42910,
"gnomad_genomes_ac": 3150,
"gnomad_exomes_homalt": 760,
"gnomad_genomes_homalt": 44,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.743,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000592502.2",
"gene_symbol": "ZNF101",
"hgnc_id": 12881,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1080_1081delTA",
"hgvs_p": "p.His360fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}