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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: 2-112380948-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112380948&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112380948,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001164463.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.4937A>G",
"hgvs_p": "p.His1646Arg",
"transcript": "NM_001164463.1",
"protein_id": "NP_001157935.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1765,
"cds_start": 4937,
"cds_end": null,
"cds_length": 5298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302558.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164463.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.4937A>G",
"hgvs_p": "p.His1646Arg",
"transcript": "ENST00000302558.8",
"protein_id": "ENSP00000306637.3",
"transcript_support_level": 1,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1765,
"cds_start": 4937,
"cds_end": null,
"cds_length": 5298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164463.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302558.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.4517A>G",
"hgvs_p": "p.His1506Arg",
"transcript": "ENST00000409750.5",
"protein_id": "ENSP00000386511.1",
"transcript_support_level": 1,
"aa_start": 1506,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4517,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409750.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.2900A>G",
"hgvs_p": "p.His967Arg",
"transcript": "ENST00000929966.1",
"protein_id": "ENSP00000600025.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2900,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929966.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.4859A>G",
"hgvs_p": "p.His1620Arg",
"transcript": "XM_024453101.2",
"protein_id": "XP_024308869.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4859,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453101.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"hgvs_c": "c.4082A>G",
"hgvs_p": "p.His1361Arg",
"transcript": "XM_047445676.1",
"protein_id": "XP_047301632.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1480,
"cds_start": 4082,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445676.1"
}
],
"gene_symbol": "RGPD8",
"gene_hgnc_id": 9849,
"dbsnp": "rs1490160676",
"frequency_reference_population": 0.0000084030435,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000840304,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07189282774925232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0786,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.6,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001164463.1",
"gene_symbol": "RGPD8",
"hgnc_id": 9849,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4937A>G",
"hgvs_p": "p.His1646Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}