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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-8529-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=M&pos=8529&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "M",
"pos": 8529,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000361851.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-ATP8",
"gene_hgnc_id": 7415,
"hgvs_c": "c.164G>T",
"hgvs_p": "p.Trp55Leu",
"transcript": "ENST00000361851.1",
"protein_id": "ENSP00000355265.1",
"transcript_support_level": 6,
"aa_start": 55,
"aa_end": null,
"aa_length": 68,
"cds_start": 164,
"cds_end": null,
"cds_length": 207,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MT-ATP6",
"gene_hgnc_id": 7414,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000361899.2",
"protein_id": "ENSP00000354632.2",
"transcript_support_level": 6,
"aa_start": 1,
"aa_end": null,
"aa_length": 226,
"cds_start": 3,
"cds_end": null,
"cds_length": 681,
"cdna_start": 3,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "L",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8",
"gene_hgnc_id": 7415,
"hgvs_c": "c.164G>T",
"hgvs_p": "p.Trp55Leu",
"transcript": "unassigned_transcript_4804",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 68,
"cds_start": 164,
"cds_end": null,
"cds_length": 207,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": null,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6",
"gene_hgnc_id": 7414,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "unassigned_transcript_4805",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 226,
"cds_start": 3,
"cds_end": null,
"cds_length": 681,
"cdna_start": 3,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TRNK",
"gene_hgnc_id": 7489,
"hgvs_c": "c.*165G>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4803",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 22,
"cds_start": -4,
"cds_end": null,
"cds_length": 70,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 70,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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-TK",
"gene_hgnc_id": 7489,
"hgvs_c": "n.*165G>T",
"hgvs_p": null,
"transcript": "ENST00000387421.1",
"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": 70,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MT-ATP8",
"gene_hgnc_id": 7415,
"dbsnp": "rs267606881",
"frequency_reference_population": 0,
"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": 0.7469408512115479,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "Apogee2",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.5114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.759,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": 0.7469408512115479,
"apogee2_prediction": "Pathogenic",
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361851.1",
"gene_symbol": "MT-ATP8",
"hgnc_id": 7415,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.164G>T",
"hgvs_p": "p.Trp55Leu"
},
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PVS1",
"PS1_Moderate",
"PM2",
"PP3"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361899.2",
"gene_symbol": "MT-ATP6",
"hgnc_id": 7414,
"effects": [
"initiator_codon_variant"
],
"inheritance_mode": "Mitochondrial,AD,AR",
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "ATP8",
"hgnc_id": 7415,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.164G>T",
"hgvs_p": "p.Trp55Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "ATP6",
"hgnc_id": 7414,
"effects": [
"initiator_codon_variant"
],
"inheritance_mode": "Mitochondrial,AD,AR",
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000000000",
"gene_symbol": "TRNK",
"hgnc_id": 7489,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.*165G>T",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000387421.1",
"gene_symbol": "MT-TK",
"hgnc_id": 7489,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.*165G>T",
"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
}