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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: 17-75948334-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75948334&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75948334,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_004035.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs",
"transcript": "NM_004035.7",
"protein_id": "NP_004026.2",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 660,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293217.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004035.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs",
"transcript": "ENST00000293217.10",
"protein_id": "ENSP00000293217.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 660,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004035.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293217.10"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs",
"transcript": "ENST00000301608.9",
"protein_id": "ENSP00000301608.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 660,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301608.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.2049delT",
"hgvs_p": "p.Gly684fs",
"transcript": "ENST00000949477.1",
"protein_id": "ENSP00000619536.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 726,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949477.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs",
"transcript": "ENST00000911078.1",
"protein_id": "ENSP00000581137.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 668,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911078.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs",
"transcript": "NM_007292.6",
"protein_id": "NP_009223.2",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 660,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007292.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1812delT",
"hgvs_p": "p.Gly605fs",
"transcript": "ENST00000911076.1",
"protein_id": "ENSP00000581135.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 647,
"cds_start": 1812,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911076.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1743delT",
"hgvs_p": "p.Gly582fs",
"transcript": "ENST00000911075.1",
"protein_id": "ENSP00000581134.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 624,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911075.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1737delT",
"hgvs_p": "p.Gly580fs",
"transcript": "NM_001185039.2",
"protein_id": "NP_001171968.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 622,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185039.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1176delT",
"hgvs_p": "p.Gly393fs",
"transcript": "ENST00000949478.1",
"protein_id": "ENSP00000619537.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 435,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949478.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.822delT",
"hgvs_p": "p.Gly275fs",
"transcript": "ENST00000911077.1",
"protein_id": "ENSP00000581136.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 317,
"cds_start": 822,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911077.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Gly102fs",
"transcript": "ENST00000588968.5",
"protein_id": "ENSP00000468651.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 152,
"cds_start": 303,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588968.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.264delT",
"hgvs_p": "p.Gly89fs",
"transcript": "ENST00000587927.5",
"protein_id": "ENSP00000466921.1",
"transcript_support_level": 3,
"aa_start": 88,
"aa_end": null,
"aa_length": 131,
"cds_start": 264,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587927.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1647delT",
"hgvs_p": "p.Gly550fs",
"transcript": "XM_047436182.1",
"protein_id": "XP_047292138.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 592,
"cds_start": 1647,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436182.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1443delT",
"hgvs_p": "p.Gly482fs",
"transcript": "XM_047436183.1",
"protein_id": "XP_047292139.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 524,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1728+882delT",
"hgvs_p": null,
"transcript": "ENST00000911074.1",
"protein_id": "ENSP00000581133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911074.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1728+882delT",
"hgvs_p": null,
"transcript": "ENST00000949479.1",
"protein_id": "ENSP00000619538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949479.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "c.1584+1160delT",
"hgvs_p": null,
"transcript": "ENST00000949480.1",
"protein_id": "ENSP00000619539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*1809delT",
"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": null,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*1340delT",
"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": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*1809delT",
"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": null,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"hgvs_c": "n.*1340delT",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573078.5"
}
],
"gene_symbol": "ACOX1",
"gene_hgnc_id": 119,
"dbsnp": "rs797045080",
"frequency_reference_population": 0.000005472398,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000054724,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.966,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"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,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_004035.7",
"gene_symbol": "ACOX1",
"hgnc_id": 119,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1851delT",
"hgvs_p": "p.Gly618fs"
}
],
"clinvar_disease": "Acyl-CoA oxidase deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Acyl-CoA oxidase deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}