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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: 1-43435201-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43435201&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43435201,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000634258.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.5906G>T",
"hgvs_p": "p.Arg1969Leu",
"transcript": "NM_001365999.1",
"protein_id": "NP_001352928.1",
"transcript_support_level": null,
"aa_start": 1969,
"aa_end": null,
"aa_length": 3432,
"cds_start": 5906,
"cds_end": null,
"cds_length": 10299,
"cdna_start": 5976,
"cdna_end": null,
"cdna_length": 14136,
"mane_select": "ENST00000634258.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.5906G>T",
"hgvs_p": "p.Arg1969Leu",
"transcript": "ENST00000634258.3",
"protein_id": "ENSP00000489255.1",
"transcript_support_level": 5,
"aa_start": 1969,
"aa_end": null,
"aa_length": 3432,
"cds_start": 5906,
"cds_end": null,
"cds_length": 10299,
"cdna_start": 5976,
"cdna_end": null,
"cdna_length": 14136,
"mane_select": "NM_001365999.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.5735G>T",
"hgvs_p": "p.Arg1912Leu",
"transcript": "NM_015284.4",
"protein_id": "NP_056099.3",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 3375,
"cds_start": 5735,
"cds_end": null,
"cds_length": 10128,
"cdna_start": 5805,
"cdna_end": null,
"cdna_length": 13965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "c.5735G>T",
"hgvs_p": "p.Arg1912Leu",
"transcript": "ENST00000562955.2",
"protein_id": "ENSP00000457168.1",
"transcript_support_level": 5,
"aa_start": 1912,
"aa_end": null,
"aa_length": 3375,
"cds_start": 5735,
"cds_end": null,
"cds_length": 10128,
"cdna_start": 5808,
"cdna_end": null,
"cdna_length": 13968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.2360G>T",
"hgvs_p": null,
"transcript": "ENST00000648058.1",
"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": 7430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"hgvs_c": "n.656G>T",
"hgvs_p": null,
"transcript": "ENST00000649403.1",
"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": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SZT2",
"gene_hgnc_id": 29040,
"dbsnp": "rs201099906",
"frequency_reference_population": 0.0000027364686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273647,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7020007967948914,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8180000185966492,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.4715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.625,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.972004287668939,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634258.3",
"gene_symbol": "SZT2",
"hgnc_id": 29040,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5906G>T",
"hgvs_p": "p.Arg1969Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}