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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: 17-7432736-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7432736&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7432736,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001364708.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEM3",
"gene_hgnc_id": 53651,
"hgvs_c": "c.3565T>G",
"hgvs_p": "p.Ser1189Ala",
"transcript": "NM_001364708.1",
"protein_id": "NP_001351637.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000636696.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364708.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEM3",
"gene_hgnc_id": 53651,
"hgvs_c": "c.3565T>G",
"hgvs_p": "p.Ser1189Ala",
"transcript": "ENST00000636696.4",
"protein_id": "ENSP00000490274.1",
"transcript_support_level": 5,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364708.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636696.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286007",
"gene_hgnc_id": null,
"hgvs_c": "n.197-3117T>G",
"hgvs_p": null,
"transcript": "ENST00000651314.1",
"protein_id": "ENSP00000498964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651314.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEM3",
"gene_hgnc_id": 53651,
"hgvs_c": "c.3466T>G",
"hgvs_p": "p.Ser1156Ala",
"transcript": "NM_001364672.1",
"protein_id": "NP_001351601.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3466,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262880",
"gene_hgnc_id": null,
"hgvs_c": "n.273-8735T>G",
"hgvs_p": null,
"transcript": "ENST00000575310.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000575310.1"
}
],
"gene_symbol": "SPEM3",
"gene_hgnc_id": 53651,
"dbsnp": "rs4796305",
"frequency_reference_population": 0.07465641,
"hom_count_reference_population": 1314,
"allele_count_reference_population": 29757,
"gnomad_exomes_af": 0.0770055,
"gnomad_genomes_af": 0.0708552,
"gnomad_exomes_ac": 18970,
"gnomad_genomes_ac": 10787,
"gnomad_exomes_homalt": 856,
"gnomad_genomes_homalt": 458,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019609928131103516,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0812,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.377,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001364708.1",
"gene_symbol": "SPEM3",
"hgnc_id": 53651,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3565T>G",
"hgvs_p": "p.Ser1189Ala"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000651314.1",
"gene_symbol": "ENSG00000286007",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.197-3117T>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000575310.1",
"gene_symbol": "ENSG00000262880",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273-8735T>G",
"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
}