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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: 7-36532317-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=36532317&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 36532317,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000617537.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "NM_001637.4",
"protein_id": "NP_001628.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 575,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000617537.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "ENST00000617537.5",
"protein_id": "ENSP00000483783.1",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 575,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_001637.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "ENST00000617267.5",
"protein_id": "ENSP00000479664.1",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 688,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "NM_001177506.2",
"protein_id": "NP_001170977.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 688,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ala413Val",
"transcript": "NM_001177507.2",
"protein_id": "NP_001170978.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 543,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ala413Val",
"transcript": "ENST00000612871.4",
"protein_id": "ENSP00000484305.1",
"transcript_support_level": 2,
"aa_start": 413,
"aa_end": null,
"aa_length": 543,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ala420Val",
"transcript": "XM_011515333.3",
"protein_id": "XP_011513635.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 663,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ala413Val",
"transcript": "XM_011515334.3",
"protein_id": "XP_011513636.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 656,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Ala404Val",
"transcript": "XM_011515335.3",
"protein_id": "XP_011513637.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 647,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "XM_011515336.3",
"protein_id": "XP_011513638.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 572,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "XM_047420297.1",
"protein_id": "XP_047276253.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 566,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ala420Val",
"transcript": "XM_017012102.3",
"protein_id": "XP_016867591.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 550,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "XM_011515338.3",
"protein_id": "XP_011513640.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 534,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "XM_011515339.3",
"protein_id": "XP_011513641.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 521,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ala420Val",
"transcript": "XM_017012104.1",
"protein_id": "XP_016867593.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 509,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "XM_011515340.3",
"protein_id": "XP_011513642.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 508,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"transcript": "XM_017012105.2",
"protein_id": "XP_016867594.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 457,
"cds_start": 641,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"transcript": "XM_011515342.3",
"protein_id": "XP_011513644.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 411,
"cds_start": 503,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 635,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "n.475C>T",
"hgvs_p": null,
"transcript": "ENST00000491444.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "n.*13C>T",
"hgvs_p": null,
"transcript": "ENST00000487014.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"hgvs_c": "n.*17C>T",
"hgvs_p": null,
"transcript": "ENST00000495942.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AOAH",
"gene_hgnc_id": 548,
"dbsnp": "rs746137257",
"frequency_reference_population": 0.00001548962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.000016418,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.146342933177948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.1542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.749,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617537.5",
"gene_symbol": "AOAH",
"hgnc_id": 548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}