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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-15848-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=M&pos=15848&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "M",
"pos": 15848,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361789.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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-CYB",
"gene_hgnc_id": 7427,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Thr368Ala",
"transcript": "ENST00000361789.2",
"protein_id": "ENSP00000354554.2",
"transcript_support_level": 6,
"aa_start": 368,
"aa_end": null,
"aa_length": 379,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1141,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "CYTB",
"gene_hgnc_id": 7427,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Thr368Ala",
"transcript": "unassigned_transcript_4818",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 379,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1141,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1141,
"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": "TRNT",
"gene_hgnc_id": 7499,
"hgvs_c": "c.-40A>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_4819",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": -4,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 66,
"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-TT",
"gene_hgnc_id": 7499,
"hgvs_c": "n.-40A>G",
"hgvs_p": null,
"transcript": "ENST00000387460.2",
"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": 66,
"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": "TRNP",
"gene_hgnc_id": 7494,
"hgvs_c": "c.*108T>C",
"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": -4,
"cds_end": null,
"cds_length": 68,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 68,
"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-TP",
"gene_hgnc_id": 7494,
"hgvs_c": "n.*108T>C",
"hgvs_p": null,
"transcript": "ENST00000387461.2",
"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": 68,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MT-CYB",
"gene_hgnc_id": 7427,
"dbsnp": "rs1057520206",
"frequency_reference_population": 0.00059999997,
"hom_count_reference_population": 38,
"allele_count_reference_population": 38,
"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": 217,
"gnomad_mito_heteroplasmic": 2,
"computational_score_selected": 0.008715350180864334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "Apogee2",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -9.607,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": 0.008715350180864334,
"apogee2_prediction": "Benign",
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000361789.2",
"gene_symbol": "MT-CYB",
"hgnc_id": 7427,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Thr368Ala"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "unassigned_transcript_4818",
"gene_symbol": "CYTB",
"hgnc_id": 7427,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Mitochondrial",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Thr368Ala"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "unassigned_transcript_4819",
"gene_symbol": "TRNT",
"hgnc_id": 7499,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.-40A>G",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000387460.2",
"gene_symbol": "MT-TT",
"hgnc_id": 7499,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.-40A>G",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "unassigned_transcript_4820",
"gene_symbol": "TRNP",
"hgnc_id": 7494,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "c.*108T>C",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000387461.2",
"gene_symbol": "MT-TP",
"hgnc_id": 7494,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Mitochondrial",
"hgvs_c": "n.*108T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Leigh syndrome,Mitochondrial disease,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Leigh syndrome|Mitochondrial disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}