← 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: M-1494-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=M&pos=1494&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "M",
"pos": 1494,
"ref": "C",
"alt": "T",
"effect": "non_coding_transcript_exon_variant",
"transcript": "unassigned_transcript_4785",
"consequences": [
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-RNR1",
"gene_hgnc_id": 7470,
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"transcript": "ENST00000389680.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNR1",
"gene_hgnc_id": 7470,
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4785",
"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": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNV",
"gene_hgnc_id": 7500,
"hgvs_c": "c.-108C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4786",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 22,
"cds_start": -4,
"cds_end": null,
"cds_length": 69,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 69,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-TV",
"gene_hgnc_id": 7500,
"hgvs_c": "n.-108C>T",
"hgvs_p": null,
"transcript": "ENST00000387342.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 69,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-RNR2",
"gene_hgnc_id": 7471,
"hgvs_c": "n.-177C>T",
"hgvs_p": null,
"transcript": "ENST00000387347.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNR2",
"gene_hgnc_id": 7471,
"hgvs_c": "n.-177C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4787",
"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": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNR1",
"gene_hgnc_id": 7470,
"dbsnp": "rs267606619",
"frequency_reference_population": null,
"hom_count_reference_population": 13,
"allele_count_reference_population": 13,
"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": 13,
"gnomad_mito_heteroplasmic": 1,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.281,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS4,PM5_Supporting,PS3_Supporting",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4785",
"gene_symbol": "RNR1",
"hgnc_id": 7470,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.847C>T",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000389680.2",
"gene_symbol": "MT-RNR1",
"hgnc_id": 7470,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.847C>T",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4786",
"gene_symbol": "TRNV",
"hgnc_id": 7500,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.-108C>T",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4787",
"gene_symbol": "RNR2",
"hgnc_id": 7471,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.-177C>T",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000387342.1",
"gene_symbol": "MT-TV",
"hgnc_id": 7500,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.-108C>T",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PS4",
"PM5_Supporting",
"PS3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000387347.2",
"gene_symbol": "MT-RNR2",
"hgnc_id": 7471,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.-177C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Aminoglycoside Ototoxicity,Aminoglycoside-induced deafness,Gentamicin response,Mitochondrial disease,Mitochondrial non-syndromic sensorineural hearing loss,Rare genetic deafness,aminoglycoside antibacterials response - Toxicity,gentamicin response - Toxicity,kanamycin response - Toxicity,streptomycin response - Toxicity,tobramycin response - Toxicity",
"clinvar_classification": " drug response,Likely pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LP:3 O:7",
"phenotype_combined": "DEAF,Aminoglycoside-induced deafness|Mitochondrial non-syndromic sensorineural hearing loss|Gentamicin response|Rare genetic deafness|gentamicin response - Toxicity|streptomycin response - Toxicity|aminoglycoside antibacterials response - Toxicity|kanamycin response - Toxicity|tobramycin response - Toxicity|Mitochondrial disease|Aminoglycoside Ototoxicity",
"pathogenicity_classification_combined": "Likely pathogenic; drug response",
"custom_annotations": null
}
],
"message": null
}