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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: 7-150860577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150860577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150860577,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000360937.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "NM_001091.4",
"protein_id": "NP_001082.2",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": "ENST00000360937.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "ENST00000360937.9",
"protein_id": "ENSP00000354193.4",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": "NM_001091.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.His664Tyr",
"transcript": "ENST00000416793.6",
"protein_id": "ENSP00000411613.2",
"transcript_support_level": 1,
"aa_start": 664,
"aa_end": null,
"aa_length": 770,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.His664Tyr",
"transcript": "NM_001272072.2",
"protein_id": "NP_001259001.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 770,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "ENST00000467291.5",
"protein_id": "ENSP00000418328.1",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "ENST00000493429.5",
"protein_id": "ENSP00000418614.1",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.His664Tyr",
"transcript": "XM_017011945.2",
"protein_id": "XP_016867434.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 770,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1990C>T",
"hgvs_p": "p.His664Tyr",
"transcript": "XM_017011946.3",
"protein_id": "XP_016867435.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 770,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "XM_017011947.2",
"protein_id": "XP_016867436.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr",
"transcript": "XM_047420128.1",
"protein_id": "XP_047276084.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 751,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "n.610C>T",
"hgvs_p": null,
"transcript": "ENST00000480582.1",
"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": 943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.270+16432G>A",
"hgvs_p": null,
"transcript": "ENST00000726369.1",
"protein_id": null,
"transcript_support_level": null,
"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": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.261+16432G>A",
"hgvs_p": null,
"transcript": "ENST00000726370.1",
"protein_id": null,
"transcript_support_level": null,
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.261+16432G>A",
"hgvs_p": null,
"transcript": "ENST00000726371.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.252+16432G>A",
"hgvs_p": null,
"transcript": "ENST00000726372.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375567",
"gene_hgnc_id": null,
"hgvs_c": "n.122+16432G>A",
"hgvs_p": null,
"transcript": "XR_928169.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375567",
"gene_hgnc_id": null,
"hgvs_c": "n.122+16432G>A",
"hgvs_p": null,
"transcript": "XR_928171.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"dbsnp": "rs1049793",
"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": 0.12496158480644226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0863,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000360937.9",
"gene_symbol": "AOC1",
"hgnc_id": 80,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.His645Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000726369.1",
"gene_symbol": "ENSG00000289052",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.270+16432G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_928169.3",
"gene_symbol": "LOC105375567",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.122+16432G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}