← 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: 7-36513294-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36513294&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 36513294,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000617537.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1686C>A",
"hgvs_p": "p.Asn562Lys",
"transcript": "NM_001637.4",
"protein_id": "NP_001628.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 575,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000617537.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1686C>A",
"hgvs_p": "p.Asn562Lys",
"transcript": "ENST00000617537.5",
"protein_id": "ENSP00000483783.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 575,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_001637.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1805C>A",
"hgvs_p": "p.Thr602Asn",
"transcript": "ENST00000617267.5",
"protein_id": "ENSP00000479664.1",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 688,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1805C>A",
"hgvs_p": "p.Thr602Asn",
"transcript": "NM_001177506.2",
"protein_id": "NP_001170977.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 688,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1590C>A",
"hgvs_p": "p.Asn530Lys",
"transcript": "NM_001177507.2",
"protein_id": "NP_001170978.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 543,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1590C>A",
"hgvs_p": "p.Asn530Lys",
"transcript": "ENST00000612871.4",
"protein_id": "ENSP00000484305.1",
"transcript_support_level": 2,
"aa_start": 530,
"aa_end": null,
"aa_length": 543,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1730C>A",
"hgvs_p": "p.Thr577Asn",
"transcript": "XM_011515333.3",
"protein_id": "XP_011513635.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 663,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1709C>A",
"hgvs_p": "p.Thr570Asn",
"transcript": "XM_011515334.3",
"protein_id": "XP_011513636.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 656,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1682C>A",
"hgvs_p": "p.Thr561Asn",
"transcript": "XM_011515335.3",
"protein_id": "XP_011513637.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 647,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1611C>A",
"hgvs_p": "p.Asn537Lys",
"transcript": "XM_017012102.3",
"protein_id": "XP_016867591.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 550,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1112C>A",
"hgvs_p": "p.Thr371Asn",
"transcript": "XM_017012105.2",
"protein_id": "XP_016867594.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 457,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.974C>A",
"hgvs_p": "p.Thr325Asn",
"transcript": "XM_011515342.3",
"protein_id": "XP_011513644.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 411,
"cds_start": 974,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "n.431C>A",
"hgvs_p": null,
"transcript": "ENST00000614254.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "n.292C>A",
"hgvs_p": null,
"transcript": "ENST00000621510.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.*88C>A",
"hgvs_p": null,
"transcript": "XM_011515336.3",
"protein_id": "XP_011513638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"dbsnp": "rs368187193",
"frequency_reference_population": 6.840488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84049e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8415613174438477,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8754,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.121,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617537.5",
"gene_symbol": "AOAH",
"hgnc_id": 548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1686C>A",
"hgvs_p": "p.Asn562Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}