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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: 17-75953469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75953469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75953469,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004035.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "NM_004035.7",
"protein_id": "NP_004026.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 660,
"cds_start": 926,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": "ENST00000293217.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004035.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000293217.10",
"protein_id": "ENSP00000293217.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 660,
"cds_start": 926,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": "NM_004035.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293217.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000301608.9",
"protein_id": "ENSP00000301608.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 660,
"cds_start": 926,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301608.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Gln375Arg",
"transcript": "ENST00000949477.1",
"protein_id": "ENSP00000619536.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 726,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949477.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000911078.1",
"protein_id": "ENSP00000581137.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 668,
"cds_start": 926,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911078.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "NM_007292.6",
"protein_id": "NP_009223.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 660,
"cds_start": 926,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 7317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007292.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Gln296Arg",
"transcript": "ENST00000911076.1",
"protein_id": "ENSP00000581135.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 647,
"cds_start": 887,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911076.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Gln273Arg",
"transcript": "ENST00000911075.1",
"protein_id": "ENSP00000581134.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 624,
"cds_start": 818,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911075.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Gln271Arg",
"transcript": "NM_001185039.2",
"protein_id": "NP_001171968.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 622,
"cds_start": 812,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185039.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000911074.1",
"protein_id": "ENSP00000581133.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 591,
"cds_start": 926,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911074.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000949479.1",
"protein_id": "ENSP00000619538.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 591,
"cds_start": 926,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949479.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg",
"transcript": "ENST00000949480.1",
"protein_id": "ENSP00000619539.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 543,
"cds_start": 926,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949480.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Gln241Arg",
"transcript": "XM_047436182.1",
"protein_id": "XP_047292138.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 592,
"cds_start": 722,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436182.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.518A>G",
"hgvs_p": "p.Gln173Arg",
"transcript": "XM_047436183.1",
"protein_id": "XP_047292139.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 524,
"cds_start": 518,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.270-1892A>G",
"hgvs_p": null,
"transcript": "ENST00000949478.1",
"protein_id": "ENSP00000619537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.270-3572A>G",
"hgvs_p": null,
"transcript": "ENST00000911077.1",
"protein_id": "ENSP00000581136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*884A>G",
"hgvs_p": null,
"transcript": "ENST00000572047.5",
"protein_id": "ENSP00000459936.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*415A>G",
"hgvs_p": null,
"transcript": "ENST00000573078.5",
"protein_id": "ENSP00000458325.1",
"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": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573078.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.176A>G",
"hgvs_p": null,
"transcript": "ENST00000589744.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 396,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*884A>G",
"hgvs_p": null,
"transcript": "ENST00000572047.5",
"protein_id": "ENSP00000459936.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000572047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*415A>G",
"hgvs_p": null,
"transcript": "ENST00000573078.5",
"protein_id": "ENSP00000458325.1",
"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": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573078.5"
}
],
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"dbsnp": "rs118204092",
"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": 0.9756919145584106,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.806,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9268,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004035.7",
"gene_symbol": "ACOX1",
"hgnc_id": 119,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Gln309Arg"
}
],
"clinvar_disease": "Acyl-CoA oxidase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acyl-CoA oxidase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}