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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: 9-128332174-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128332174&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128332174,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016035.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Ala142Thr",
"transcript": "NM_016035.5",
"protein_id": "NP_057119.3",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 265,
"cds_start": 424,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016035.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Ala142Thr",
"transcript": "ENST00000300452.8",
"protein_id": "ENSP00000300452.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 265,
"cds_start": 424,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016035.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300452.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "ENST00000926106.1",
"protein_id": "ENSP00000596165.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 285,
"cds_start": 484,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926106.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Ala159Thr",
"transcript": "ENST00000926105.1",
"protein_id": "ENSP00000596164.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 282,
"cds_start": 475,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926105.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Ala147Thr",
"transcript": "ENST00000926108.1",
"protein_id": "ENSP00000596167.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926108.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Ala144Thr",
"transcript": "ENST00000970497.1",
"protein_id": "ENSP00000640556.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 267,
"cds_start": 430,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970497.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"transcript": "ENST00000861347.1",
"protein_id": "ENSP00000531406.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 237,
"cds_start": 340,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861347.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Ala86Thr",
"transcript": "ENST00000926107.1",
"protein_id": "ENSP00000596166.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 209,
"cds_start": 256,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926107.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Ala71Thr",
"transcript": "ENST00000926109.1",
"protein_id": "ENSP00000596168.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 194,
"cds_start": 211,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.*24G>A",
"hgvs_p": null,
"transcript": "XM_047423449.1",
"protein_id": "XP_047279405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.403-48G>A",
"hgvs_p": null,
"transcript": "ENST00000861346.1",
"protein_id": "ENSP00000531405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.353-676G>A",
"hgvs_p": null,
"transcript": "ENST00000926110.1",
"protein_id": "ENSP00000596169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.203-676G>A",
"hgvs_p": null,
"transcript": "ENST00000861345.1",
"protein_id": "ENSP00000531404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.*3-1300G>A",
"hgvs_p": null,
"transcript": "NM_001305942.2",
"protein_id": "NP_001292871.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305942.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.*3-676G>A",
"hgvs_p": null,
"transcript": "XM_017014792.2",
"protein_id": "XP_016870281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014792.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "n.1763G>A",
"hgvs_p": null,
"transcript": "ENST00000461102.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000461102.1"
}
],
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"dbsnp": "rs34043652",
"frequency_reference_population": 0.0054809772,
"hom_count_reference_population": 87,
"allele_count_reference_population": 8673,
"gnomad_exomes_af": 0.00567035,
"gnomad_genomes_af": 0.00370293,
"gnomad_exomes_ac": 8109,
"gnomad_genomes_ac": 564,
"gnomad_exomes_homalt": 82,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007908999919891357,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.85,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 20,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016035.5",
"gene_symbol": "COQ4",
"hgnc_id": 19693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Ala142Thr"
}
],
"clinvar_disease": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}