← 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: 8-103403276-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=103403276&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 103403276,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000297578.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"transcript": "NM_030780.5",
"protein_id": "NP_110407.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "ENST00000297578.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"transcript": "ENST00000297578.9",
"protein_id": "ENSP00000297578.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "NM_030780.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285982",
"gene_hgnc_id": null,
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96His",
"transcript": "ENST00000649416.1",
"protein_id": "ENSP00000496817.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 264,
"cds_start": 287,
"cds_end": null,
"cds_length": 795,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000707124.1",
"protein_id": "ENSP00000516752.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 338,
"cds_start": 509,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "n.354G>A",
"hgvs_p": null,
"transcript": "ENST00000523866.1",
"protein_id": "ENSP00000430371.1",
"transcript_support_level": 2,
"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": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "n.524G>A",
"hgvs_p": null,
"transcript": "NR_102337.2",
"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": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "n.719G>A",
"hgvs_p": null,
"transcript": "NR_102338.2",
"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": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "n.392-1222G>A",
"hgvs_p": null,
"transcript": "ENST00000521645.5",
"protein_id": "ENSP00000430989.1",
"transcript_support_level": 5,
"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": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"hgvs_c": "n.306-1222G>A",
"hgvs_p": null,
"transcript": "ENST00000523256.6",
"protein_id": "ENSP00000427737.1",
"transcript_support_level": 5,
"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": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A32",
"gene_hgnc_id": 29683,
"dbsnp": "rs142329098",
"frequency_reference_population": 0.00017119039,
"hom_count_reference_population": 0,
"allele_count_reference_population": 276,
"gnomad_exomes_af": 0.000167772,
"gnomad_genomes_af": 0.000204047,
"gnomad_exomes_ac": 245,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8229525685310364,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.885,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.559,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000297578.9",
"gene_symbol": "SLC25A32",
"hgnc_id": 29683,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649416.1",
"gene_symbol": "ENSG00000285982",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96His"
}
],
"clinvar_disease": " riboflavin-responsive,Exercise intolerance,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Exercise intolerance, riboflavin-responsive|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}