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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: 4-73078647-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73078647&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73078647,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032217.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7403A>G",
"hgvs_p": "p.Asn2468Ser",
"transcript": "NM_032217.5",
"protein_id": "NP_115593.3",
"transcript_support_level": null,
"aa_start": 2468,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7403,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7533,
"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": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7403A>G",
"hgvs_p": "p.Asn2468Ser",
"transcript": "ENST00000358602.9",
"protein_id": "ENSP00000351416.4",
"transcript_support_level": 5,
"aa_start": 2468,
"aa_end": null,
"aa_length": 2603,
"cds_start": 7403,
"cds_end": null,
"cds_length": 7812,
"cdna_start": 7533,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7064A>G",
"hgvs_p": "p.Asn2355Ser",
"transcript": "ENST00000509867.6",
"protein_id": "ENSP00000427151.2",
"transcript_support_level": 1,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7064,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7151,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509867.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7052A>G",
"hgvs_p": "p.Asn2351Ser",
"transcript": "ENST00000558247.5",
"protein_id": "ENSP00000453434.1",
"transcript_support_level": 1,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7052,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 7054,
"cdna_end": null,
"cdna_length": 8456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558247.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7400A>G",
"hgvs_p": "p.Asn2467Ser",
"transcript": "NM_015574.2",
"protein_id": "NP_056389.1",
"transcript_support_level": null,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2602,
"cds_start": 7400,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 7530,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015574.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7322A>G",
"hgvs_p": "p.Asn2441Ser",
"transcript": "ENST00000914560.1",
"protein_id": "ENSP00000584619.1",
"transcript_support_level": null,
"aa_start": 2441,
"aa_end": null,
"aa_length": 2576,
"cds_start": 7322,
"cds_end": null,
"cds_length": 7731,
"cdna_start": 7490,
"cdna_end": null,
"cdna_length": 9347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914560.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7205A>G",
"hgvs_p": "p.Asn2402Ser",
"transcript": "ENST00000914561.1",
"protein_id": "ENSP00000584620.1",
"transcript_support_level": null,
"aa_start": 2402,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7205,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7343,
"cdna_end": null,
"cdna_length": 9196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914561.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7064A>G",
"hgvs_p": "p.Asn2355Ser",
"transcript": "NM_001286771.3",
"protein_id": "NP_001273700.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7064,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7094,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286771.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7061A>G",
"hgvs_p": "p.Asn2354Ser",
"transcript": "ENST00000914562.1",
"protein_id": "ENSP00000584621.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7061,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7223,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914562.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6650A>G",
"hgvs_p": "p.Asn2217Ser",
"transcript": "NM_198889.3",
"protein_id": "NP_942592.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6650,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 6780,
"cdna_end": null,
"cdna_length": 10044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198889.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6650A>G",
"hgvs_p": "p.Asn2217Ser",
"transcript": "ENST00000330838.10",
"protein_id": "ENSP00000332265.6",
"transcript_support_level": 2,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6650,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 6780,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330838.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6647A>G",
"hgvs_p": "p.Asn2216Ser",
"transcript": "ENST00000914559.1",
"protein_id": "ENSP00000584618.1",
"transcript_support_level": null,
"aa_start": 2216,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6647,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 7126,
"cdna_end": null,
"cdna_length": 8981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914559.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7205A>G",
"hgvs_p": "p.Asn2402Ser",
"transcript": "XM_047450038.1",
"protein_id": "XP_047305994.1",
"transcript_support_level": null,
"aa_start": 2402,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7205,
"cds_end": null,
"cds_length": 7614,
"cdna_start": 7335,
"cdna_end": null,
"cdna_length": 10599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450038.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.7061A>G",
"hgvs_p": "p.Asn2354Ser",
"transcript": "XM_017008011.2",
"protein_id": "XP_016863500.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7061,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7091,
"cdna_end": null,
"cdna_length": 10355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008011.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6968A>G",
"hgvs_p": "p.Asn2323Ser",
"transcript": "XM_047450039.1",
"protein_id": "XP_047305995.1",
"transcript_support_level": null,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6968,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 22618,
"cdna_end": null,
"cdna_length": 25882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450039.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6740A>G",
"hgvs_p": "p.Asn2247Ser",
"transcript": "XM_047450040.1",
"protein_id": "XP_047305996.1",
"transcript_support_level": null,
"aa_start": 2247,
"aa_end": null,
"aa_length": 2382,
"cds_start": 6740,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 6939,
"cdna_end": null,
"cdna_length": 10203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450040.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"transcript": "XM_047450041.1",
"protein_id": "XP_047305997.1",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2381,
"cds_start": 6737,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 6958,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450041.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6647A>G",
"hgvs_p": "p.Asn2216Ser",
"transcript": "XM_005265671.5",
"protein_id": "XP_005265728.1",
"transcript_support_level": null,
"aa_start": 2216,
"aa_end": null,
"aa_length": 2351,
"cds_start": 6647,
"cds_end": null,
"cds_length": 7056,
"cdna_start": 6777,
"cdna_end": null,
"cdna_length": 10041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265671.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6311A>G",
"hgvs_p": "p.Asn2104Ser",
"transcript": "XM_017008012.2",
"protein_id": "XP_016863501.1",
"transcript_support_level": null,
"aa_start": 2104,
"aa_end": null,
"aa_length": 2239,
"cds_start": 6311,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 6341,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008012.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "c.6308A>G",
"hgvs_p": "p.Asn2103Ser",
"transcript": "XM_017008013.2",
"protein_id": "XP_016863502.1",
"transcript_support_level": null,
"aa_start": 2103,
"aa_end": null,
"aa_length": 2238,
"cds_start": 6308,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 6338,
"cdna_end": null,
"cdna_length": 9602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008013.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"hgvs_c": "n.334A>G",
"hgvs_p": null,
"transcript": "ENST00000510127.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510127.1"
}
],
"gene_symbol": "ANKRD17",
"gene_hgnc_id": 23575,
"dbsnp": "rs138897562",
"frequency_reference_population": 0.000011153757,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116313,
"gnomad_genomes_af": 0.00000656892,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07375803589820862,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.752,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032217.5",
"gene_symbol": "ANKRD17",
"hgnc_id": 23575,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7403A>G",
"hgvs_p": "p.Asn2468Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}