← 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-3243-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=M&pos=3243&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "M",
"pos": 3243,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "unassigned_transcript_4788",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"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": "TRNL1",
"gene_hgnc_id": 7490,
"hgvs_c": "c.14A>T",
"hgvs_p": "p.Glu5Val",
"transcript": "unassigned_transcript_4788",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 24,
"cds_start": 14,
"cds_end": null,
"cds_length": 75,
"cdna_start": 14,
"cdna_end": null,
"cdna_length": 75,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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-TL1",
"gene_hgnc_id": 7490,
"hgvs_c": "n.14A>T",
"hgvs_p": null,
"transcript": "ENST00000386347.1",
"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": 75,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "MT-ND1",
"gene_hgnc_id": 7455,
"hgvs_c": "c.-64A>T",
"hgvs_p": null,
"transcript": "ENST00000361390.2",
"protein_id": "ENSP00000354687.2",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 956,
"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": "ND1",
"gene_hgnc_id": 7455,
"hgvs_c": "c.-64A>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_4789",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 956,
"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-RNR2",
"gene_hgnc_id": 7471,
"hgvs_c": "n.*14A>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": [
"downstream_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.*14A>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": "TRNL1",
"gene_hgnc_id": 7490,
"dbsnp": "rs199474657",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"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": 13.348299980163574,
"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": 5.826,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": 13.348299980163574,
"mitotip_prediction": "Uncertain_significance",
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS4_Moderate,PM5_Supporting,PP3,PM2_Supporting,PS3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4788",
"gene_symbol": "TRNL1",
"hgnc_id": 7490,
"effects": [
"missense_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.14A>T",
"hgvs_p": "p.Glu5Val"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000386347.1",
"gene_symbol": "MT-TL1",
"hgnc_id": 7490,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.14A>T",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000361390.2",
"gene_symbol": "MT-ND1",
"hgnc_id": 7455,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.-64A>T",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4789",
"gene_symbol": "ND1",
"hgnc_id": 7455,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.-64A>T",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "unassigned_transcript_4787",
"gene_symbol": "RNR2",
"hgnc_id": 7471,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.*14A>T",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PS4_Moderate",
"PM5_Supporting",
"PP3",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000387347.2",
"gene_symbol": "MT-RNR2",
"hgnc_id": 7471,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.*14A>T",
"hgvs_p": null
}
],
"clinvar_disease": "MELAS syndrome,Mitochondrial disease",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:2 LP:1 O:1",
"phenotype_combined": "MELAS-/-Leigh-Syndrome-/-DMDF-/-MIDD-/-SNHL-/-CPEO-/-MM-/-FSGS-/-ASD-/-Cardiac+multi-organ-dysfunction,MM-/-MELAS-/-SNHL-/-CPEO,MELAS syndrome|Mitochondrial disease",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}