← 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: 12-4765380-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=4765380&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 4765380,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000252318.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"hgvs_c": "c.1595A>T",
"hgvs_p": "p.Asn532Ile",
"transcript": "NM_017417.2",
"protein_id": "NP_059113.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 637,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": "ENST00000252318.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"hgvs_c": "c.1595A>T",
"hgvs_p": "p.Asn532Ile",
"transcript": "ENST00000252318.7",
"protein_id": "ENSP00000252318.2",
"transcript_support_level": 1,
"aa_start": 532,
"aa_end": null,
"aa_length": 637,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": "NM_017417.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255639",
"gene_hgnc_id": null,
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Asn462Ile",
"transcript": "ENST00000648836.1",
"protein_id": "ENSP00000497305.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 567,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"hgvs_c": "c.143A>T",
"hgvs_p": "p.Asn48Ile",
"transcript": "ENST00000542998.5",
"protein_id": "ENSP00000440383.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 160,
"cds_start": 143,
"cds_end": null,
"cds_length": 483,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"hgvs_c": "c.80A>T",
"hgvs_p": "p.Asn27Ile",
"transcript": "ENST00000535354.1",
"protein_id": "ENSP00000444876.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 87,
"cds_start": 80,
"cds_end": null,
"cds_length": 264,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 283,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"hgvs_c": "n.447A>T",
"hgvs_p": null,
"transcript": "ENST00000648865.1",
"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": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALNT8",
"gene_hgnc_id": 4130,
"dbsnp": "rs1946394691",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000238465,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1438649296760559,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.1701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.49,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000842535521402798,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000252318.7",
"gene_symbol": "GALNT8",
"hgnc_id": 4130,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1595A>T",
"hgvs_p": "p.Asn532Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000648836.1",
"gene_symbol": "ENSG00000255639",
"hgnc_id": null,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1385A>T",
"hgvs_p": "p.Asn462Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}