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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: M-15950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=M&pos=15950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "M",
"pos": 15950,
"ref": "G",
"alt": "A",
"effect": "stop_retained_variant",
"transcript": "ENST00000000000",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNT",
"gene_hgnc_id": 7499,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Ter21Ter",
"transcript": "unassigned_transcript_4819",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 21,
"cds_start": 63,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "unassigned_transcript_4819"
},
{
"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-TT",
"gene_hgnc_id": 7499,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000387460.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "Mt_tRNA",
"feature": "ENST00000387460.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-CYB",
"gene_hgnc_id": 7427,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "ENST00000361789.2",
"protein_id": "ENSP00000354554.2",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361789.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTB",
"gene_hgnc_id": 7427,
"hgvs_c": "c.*63G>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_4818",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "unassigned_transcript_4818"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRNP",
"gene_hgnc_id": 7494,
"hgvs_c": "c.*6C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4820",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": null,
"cds_end": null,
"cds_length": 68,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "unassigned_transcript_4820"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-TP",
"gene_hgnc_id": 7494,
"hgvs_c": "n.*6C>T",
"hgvs_p": null,
"transcript": "ENST00000387461.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "Mt_tRNA",
"feature": "ENST00000387461.2"
}
],
"gene_symbol": "TRNT",
"gene_hgnc_id": 7499,
"dbsnp": "rs118203890",
"frequency_reference_population": null,
"hom_count_reference_population": 3,
"allele_count_reference_population": 3,
"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": 3,
"gnomad_mito_heteroplasmic": 0,
"computational_score_selected": 12.943499565124512,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "Mitotip",
"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": 1.533,
"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": 12.943499565124512,
"mitotip_prediction": "Uncertain_significance",
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP7",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "TRNT",
"hgnc_id": 7499,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Ter21Ter"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000387460.2",
"gene_symbol": "MT-TT",
"hgnc_id": 7499,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.63G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361789.2",
"gene_symbol": "MT-CYB",
"hgnc_id": 7427,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.*63G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "CYTB",
"hgnc_id": 7427,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.*63G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "TRNP",
"hgnc_id": 7494,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.*6C>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000387461.2",
"gene_symbol": "MT-TP",
"hgnc_id": 7494,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.*6C>T",
"hgvs_p": null
}
],
"clinvar_disease": " mitochondrial,MELAS syndrome,Parkinson disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "LHON-/-LHON-MS-/-dopaminergic-nerve-cell-death-(PD)-/-tic-disorder,Parkinson disease, mitochondrial|MELAS syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}