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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: 4-73076961-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73076961&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73076961,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000358602.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7731G>A",
"hgvs_p": "p.Thr2577Thr",
"transcript": "NM_032217.5",
"protein_id": "NP_115593.3",
"transcript_support_level": null,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7731,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7861,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "ENST00000358602.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7731G>A",
"hgvs_p": "p.Thr2577Thr",
"transcript": "ENST00000358602.9",
"protein_id": "ENSP00000351416.4",
"transcript_support_level": 5,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7731,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7861,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "NM_032217.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7392G>A",
"hgvs_p": "p.Thr2464Thr",
"transcript": "ENST00000509867.6",
"protein_id": "ENSP00000427151.2",
"transcript_support_level": 1,
"aa_start": 2464,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7392,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7479,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7380G>A",
"hgvs_p": "p.Thr2460Thr",
"transcript": "ENST00000558247.5",
"protein_id": "ENSP00000453434.1",
"transcript_support_level": 1,
"aa_start": 2460,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7380,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 7382,
"cdna_end": null,
"cdna_length": 8456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7728G>A",
"hgvs_p": "p.Thr2576Thr",
"transcript": "NM_015574.2",
"protein_id": "NP_056389.1",
"transcript_support_level": null,
"aa_start": 2576,
"aa_end": null,
"aa_length": 2602,
"cds_start": 7728,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 7858,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7392G>A",
"hgvs_p": "p.Thr2464Thr",
"transcript": "NM_001286771.3",
"protein_id": "NP_001273700.1",
"transcript_support_level": null,
"aa_start": 2464,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7392,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7422,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6978G>A",
"hgvs_p": "p.Thr2326Thr",
"transcript": "NM_198889.3",
"protein_id": "NP_942592.1",
"transcript_support_level": null,
"aa_start": 2326,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6978,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 7108,
"cdna_end": null,
"cdna_length": 10044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6978G>A",
"hgvs_p": "p.Thr2326Thr",
"transcript": "ENST00000330838.10",
"protein_id": "ENSP00000332265.6",
"transcript_support_level": 2,
"aa_start": 2326,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6978,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 7108,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7533G>A",
"hgvs_p": "p.Thr2511Thr",
"transcript": "XM_047450038.1",
"protein_id": "XP_047305994.1",
"transcript_support_level": null,
"aa_start": 2511,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7533,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7663,
"cdna_end": null,
"cdna_length": 10599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7389G>A",
"hgvs_p": "p.Thr2463Thr",
"transcript": "XM_017008011.2",
"protein_id": "XP_016863500.1",
"transcript_support_level": null,
"aa_start": 2463,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7389,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7419,
"cdna_end": null,
"cdna_length": 10355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7296G>A",
"hgvs_p": "p.Thr2432Thr",
"transcript": "XM_047450039.1",
"protein_id": "XP_047305995.1",
"transcript_support_level": null,
"aa_start": 2432,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7296,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 22946,
"cdna_end": null,
"cdna_length": 25882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7068G>A",
"hgvs_p": "p.Thr2356Thr",
"transcript": "XM_047450040.1",
"protein_id": "XP_047305996.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7068,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 7267,
"cdna_end": null,
"cdna_length": 10203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7065G>A",
"hgvs_p": "p.Thr2355Thr",
"transcript": "XM_047450041.1",
"protein_id": "XP_047305997.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2381,
"cds_start": 7065,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 7286,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6975G>A",
"hgvs_p": "p.Thr2325Thr",
"transcript": "XM_005265671.5",
"protein_id": "XP_005265728.1",
"transcript_support_level": null,
"aa_start": 2325,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6975,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 7105,
"cdna_end": null,
"cdna_length": 10041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6639G>A",
"hgvs_p": "p.Thr2213Thr",
"transcript": "XM_017008012.2",
"protein_id": "XP_016863501.1",
"transcript_support_level": null,
"aa_start": 2213,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6639,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 6669,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6636G>A",
"hgvs_p": "p.Thr2212Thr",
"transcript": "XM_017008013.2",
"protein_id": "XP_016863502.1",
"transcript_support_level": null,
"aa_start": 2212,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6636,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 6666,
"cdna_end": null,
"cdna_length": 9602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"dbsnp": "rs2306058",
"frequency_reference_population": 0.16316648,
"hom_count_reference_population": 23467,
"allele_count_reference_population": 262731,
"gnomad_exomes_af": 0.1662,
"gnomad_genomes_af": 0.134084,
"gnomad_exomes_ac": 242336,
"gnomad_genomes_ac": 20395,
"gnomad_exomes_homalt": 21695,
"gnomad_genomes_homalt": 1772,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.2,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000358602.9",
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7731G>A",
"hgvs_p": "p.Thr2577Thr"
}
],
"clinvar_disease": "Lip and oral cavity carcinoma",
"clinvar_classification": "association",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Lip and oral cavity carcinoma",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}