← 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: 4-73077021-A-ATTAAATAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73077021&ref=A&alt=ATTAAATAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73077021,
"ref": "A",
"alt": "ATTAAATAT",
"effect": "frameshift_variant",
"transcript": "NM_032217.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7663_7670dupATATTTAA",
"hgvs_p": "p.Asn2557fs",
"transcript": "NM_032217.5",
"protein_id": "NP_115593.3",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7670,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7800,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "ENST00000358602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032217.5"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7663_7670dupATATTTAA",
"hgvs_p": "p.Asn2557fs",
"transcript": "ENST00000358602.9",
"protein_id": "ENSP00000351416.4",
"transcript_support_level": 5,
"aa_start": 2557,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7670,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7800,
"cdna_end": null,
"cdna_length": 10797,
"mane_select": "NM_032217.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358602.9"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7324_7331dupATATTTAA",
"hgvs_p": "p.Asn2444fs",
"transcript": "ENST00000509867.6",
"protein_id": "ENSP00000427151.2",
"transcript_support_level": 1,
"aa_start": 2444,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7331,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7418,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509867.6"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7312_7319dupATATTTAA",
"hgvs_p": "p.Asn2440fs",
"transcript": "ENST00000558247.5",
"protein_id": "ENSP00000453434.1",
"transcript_support_level": 1,
"aa_start": 2440,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7319,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 7321,
"cdna_end": null,
"cdna_length": 8456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558247.5"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7660_7667dupATATTTAA",
"hgvs_p": "p.Asn2556fs",
"transcript": "NM_015574.2",
"protein_id": "NP_056389.1",
"transcript_support_level": null,
"aa_start": 2556,
"aa_end": null,
"aa_length": 2602,
"cds_start": 7667,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 7797,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015574.2"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7582_7589dupATATTTAA",
"hgvs_p": "p.Asn2530fs",
"transcript": "ENST00000914560.1",
"protein_id": "ENSP00000584619.1",
"transcript_support_level": null,
"aa_start": 2530,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7589,
"cds_end": null,
"cds_length": 7731,
"cdna_start": 7757,
"cdna_end": null,
"cdna_length": 9347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914560.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7465_7472dupATATTTAA",
"hgvs_p": "p.Asn2491fs",
"transcript": "ENST00000914561.1",
"protein_id": "ENSP00000584620.1",
"transcript_support_level": null,
"aa_start": 2491,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7472,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7610,
"cdna_end": null,
"cdna_length": 9196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914561.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7324_7331dupATATTTAA",
"hgvs_p": "p.Asn2444fs",
"transcript": "NM_001286771.3",
"protein_id": "NP_001273700.1",
"transcript_support_level": null,
"aa_start": 2444,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7331,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7361,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286771.3"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7321_7328dupATATTTAA",
"hgvs_p": "p.Asn2443fs",
"transcript": "ENST00000914562.1",
"protein_id": "ENSP00000584621.1",
"transcript_support_level": null,
"aa_start": 2443,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7328,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7490,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914562.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6910_6917dupATATTTAA",
"hgvs_p": "p.Asn2306fs",
"transcript": "NM_198889.3",
"protein_id": "NP_942592.1",
"transcript_support_level": null,
"aa_start": 2306,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6917,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 7047,
"cdna_end": null,
"cdna_length": 10044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198889.3"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6910_6917dupATATTTAA",
"hgvs_p": "p.Asn2306fs",
"transcript": "ENST00000330838.10",
"protein_id": "ENSP00000332265.6",
"transcript_support_level": 2,
"aa_start": 2306,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6917,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 7047,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330838.10"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6907_6914dupATATTTAA",
"hgvs_p": "p.Asn2305fs",
"transcript": "ENST00000914559.1",
"protein_id": "ENSP00000584618.1",
"transcript_support_level": null,
"aa_start": 2305,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6914,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 7393,
"cdna_end": null,
"cdna_length": 8981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914559.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7465_7472dupATATTTAA",
"hgvs_p": "p.Asn2491fs",
"transcript": "XM_047450038.1",
"protein_id": "XP_047305994.1",
"transcript_support_level": null,
"aa_start": 2491,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7472,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7602,
"cdna_end": null,
"cdna_length": 10599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450038.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7321_7328dupATATTTAA",
"hgvs_p": "p.Asn2443fs",
"transcript": "XM_017008011.2",
"protein_id": "XP_016863500.1",
"transcript_support_level": null,
"aa_start": 2443,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7328,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7358,
"cdna_end": null,
"cdna_length": 10355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008011.2"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7228_7235dupATATTTAA",
"hgvs_p": "p.Asn2412fs",
"transcript": "XM_047450039.1",
"protein_id": "XP_047305995.1",
"transcript_support_level": null,
"aa_start": 2412,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7235,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 22885,
"cdna_end": null,
"cdna_length": 25882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450039.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.7000_7007dupATATTTAA",
"hgvs_p": "p.Asn2336fs",
"transcript": "XM_047450040.1",
"protein_id": "XP_047305996.1",
"transcript_support_level": null,
"aa_start": 2336,
"aa_end": null,
"aa_length": 2382,
"cds_start": 7007,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 7206,
"cdna_end": null,
"cdna_length": 10203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450040.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6997_7004dupATATTTAA",
"hgvs_p": "p.Asn2335fs",
"transcript": "XM_047450041.1",
"protein_id": "XP_047305997.1",
"transcript_support_level": null,
"aa_start": 2335,
"aa_end": null,
"aa_length": 2381,
"cds_start": 7004,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 7225,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450041.1"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6907_6914dupATATTTAA",
"hgvs_p": "p.Asn2305fs",
"transcript": "XM_005265671.5",
"protein_id": "XP_005265728.1",
"transcript_support_level": null,
"aa_start": 2305,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6914,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 7044,
"cdna_end": null,
"cdna_length": 10041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265671.5"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6571_6578dupATATTTAA",
"hgvs_p": "p.Asn2193fs",
"transcript": "XM_017008012.2",
"protein_id": "XP_016863501.1",
"transcript_support_level": null,
"aa_start": 2193,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6578,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 6608,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008012.2"
},
{
"aa_ref": "N",
"aa_alt": "KYL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.6568_6575dupATATTTAA",
"hgvs_p": "p.Asn2192fs",
"transcript": "XM_017008013.2",
"protein_id": "XP_016863502.1",
"transcript_support_level": null,
"aa_start": 2192,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6575,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 6605,
"cdna_end": null,
"cdna_length": 9602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008013.2"
}
],
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"dbsnp": null,
"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": 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": 5.136,
"phylop100way_prediction": "Uncertain_significance",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_032217.5",
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7663_7670dupATATTTAA",
"hgvs_p": "p.Asn2557fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}