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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: 9-128333526-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128333526&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128333526,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016035.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"transcript": "NM_016035.5",
"protein_id": "NP_057119.3",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 265,
"cds_start": 679,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"transcript": "ENST00000300452.8",
"protein_id": "ENSP00000300452.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 265,
"cds_start": 679,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "ENST00000926106.1",
"protein_id": "ENSP00000596165.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 285,
"cds_start": 739,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244Cys",
"transcript": "ENST00000926105.1",
"protein_id": "ENSP00000596164.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 282,
"cds_start": 730,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232Cys",
"transcript": "ENST00000926108.1",
"protein_id": "ENSP00000596167.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 270,
"cds_start": 694,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Cys",
"transcript": "ENST00000970497.1",
"protein_id": "ENSP00000640556.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 267,
"cds_start": 685,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Cys",
"transcript": "ENST00000861346.1",
"protein_id": "ENSP00000531405.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 242,
"cds_start": 610,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "ENST00000861347.1",
"protein_id": "ENSP00000531406.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 237,
"cds_start": 595,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"transcript": "ENST00000926107.1",
"protein_id": "ENSP00000596166.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 209,
"cds_start": 511,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Cys",
"transcript": "ENST00000926110.1",
"protein_id": "ENSP00000596169.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 205,
"cds_start": 499,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000926109.1",
"protein_id": "ENSP00000596168.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 194,
"cds_start": 466,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.349C>T",
"hgvs_p": "p.Arg117Cys",
"transcript": "ENST00000861345.1",
"protein_id": "ENSP00000531404.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 155,
"cds_start": 349,
"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": [
"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.*55C>T",
"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": false,
"strand": true,
"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": "COQ4",
"gene_hgnc_id": 19693,
"hgvs_c": "n.2585C>T",
"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": "rs767665620",
"frequency_reference_population": 0.000054985703,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000504027,
"gnomad_genomes_af": 0.0000986323,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.086941659450531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
"alphamissense_score": 0.1033,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.577,
"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": 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": "NM_016035.5",
"gene_symbol": "COQ4",
"hgnc_id": 19693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys"
}
],
"clinvar_disease": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}