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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: 4-73091019-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73091019&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73091019,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000358602.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6609C>G",
"hgvs_p": "p.Leu2203Leu",
"transcript": "NM_032217.5",
"protein_id": "NP_115593.3",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2603,
"cds_start": 6609,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 6739,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "ENST00000358602.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6609C>G",
"hgvs_p": "p.Leu2203Leu",
"transcript": "ENST00000358602.9",
"protein_id": "ENSP00000351416.4",
"transcript_support_level": 5,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2603,
"cds_start": 6609,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 6739,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "NM_032217.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6270C>G",
"hgvs_p": "p.Leu2090Leu",
"transcript": "ENST00000509867.6",
"protein_id": "ENSP00000427151.2",
"transcript_support_level": 1,
"aa_start": 2090,
"aa_end": null,
"aa_length": 2490,
"cds_start": 6270,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 6357,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6258C>G",
"hgvs_p": "p.Leu2086Leu",
"transcript": "ENST00000558247.5",
"protein_id": "ENSP00000453434.1",
"transcript_support_level": 1,
"aa_start": 2086,
"aa_end": null,
"aa_length": 2486,
"cds_start": 6258,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 6260,
"cdna_end": null,
"cdna_length": 8456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6606C>G",
"hgvs_p": "p.Leu2202Leu",
"transcript": "NM_015574.2",
"protein_id": "NP_056389.1",
"transcript_support_level": null,
"aa_start": 2202,
"aa_end": null,
"aa_length": 2602,
"cds_start": 6606,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 6736,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6270C>G",
"hgvs_p": "p.Leu2090Leu",
"transcript": "NM_001286771.3",
"protein_id": "NP_001273700.1",
"transcript_support_level": null,
"aa_start": 2090,
"aa_end": null,
"aa_length": 2490,
"cds_start": 6270,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 6300,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5856C>G",
"hgvs_p": "p.Leu1952Leu",
"transcript": "NM_198889.3",
"protein_id": "NP_942592.1",
"transcript_support_level": null,
"aa_start": 1952,
"aa_end": null,
"aa_length": 2352,
"cds_start": 5856,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 5986,
"cdna_end": null,
"cdna_length": 10044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5856C>G",
"hgvs_p": "p.Leu1952Leu",
"transcript": "ENST00000330838.10",
"protein_id": "ENSP00000332265.6",
"transcript_support_level": 2,
"aa_start": 1952,
"aa_end": null,
"aa_length": 2352,
"cds_start": 5856,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 5986,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6609C>G",
"hgvs_p": "p.Leu2203Leu",
"transcript": "XM_047450038.1",
"protein_id": "XP_047305994.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2537,
"cds_start": 6609,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 6739,
"cdna_end": null,
"cdna_length": 10599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6267C>G",
"hgvs_p": "p.Leu2089Leu",
"transcript": "XM_017008011.2",
"protein_id": "XP_016863500.1",
"transcript_support_level": null,
"aa_start": 2089,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6267,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 6297,
"cdna_end": null,
"cdna_length": 10355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6174C>G",
"hgvs_p": "p.Leu2058Leu",
"transcript": "XM_047450039.1",
"protein_id": "XP_047305995.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6174,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 21824,
"cdna_end": null,
"cdna_length": 25882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5946C>G",
"hgvs_p": "p.Leu1982Leu",
"transcript": "XM_047450040.1",
"protein_id": "XP_047305996.1",
"transcript_support_level": null,
"aa_start": 1982,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5946,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6145,
"cdna_end": null,
"cdna_length": 10203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5943C>G",
"hgvs_p": "p.Leu1981Leu",
"transcript": "XM_047450041.1",
"protein_id": "XP_047305997.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2381,
"cds_start": 5943,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 6164,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5853C>G",
"hgvs_p": "p.Leu1951Leu",
"transcript": "XM_005265671.5",
"protein_id": "XP_005265728.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2351,
"cds_start": 5853,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 5983,
"cdna_end": null,
"cdna_length": 10041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5517C>G",
"hgvs_p": "p.Leu1839Leu",
"transcript": "XM_017008012.2",
"protein_id": "XP_016863501.1",
"transcript_support_level": null,
"aa_start": 1839,
"aa_end": null,
"aa_length": 2239,
"cds_start": 5517,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 5547,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.5514C>G",
"hgvs_p": "p.Leu1838Leu",
"transcript": "XM_017008013.2",
"protein_id": "XP_016863502.1",
"transcript_support_level": null,
"aa_start": 1838,
"aa_end": null,
"aa_length": 2238,
"cds_start": 5514,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 5544,
"cdna_end": null,
"cdna_length": 9602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"dbsnp": "rs6855349",
"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": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.353,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000358602.9",
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6609C>G",
"hgvs_p": "p.Leu2203Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}