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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: 22-41237241-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41237241&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41237241,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138481.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.1831G>A",
"hgvs_p": "p.Gly611Arg",
"transcript": "NM_138481.2",
"protein_id": "NP_612490.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 762,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216241.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138481.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.1831G>A",
"hgvs_p": "p.Gly611Arg",
"transcript": "ENST00000216241.14",
"protein_id": "ENSP00000216241.9",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 762,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138481.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216241.14"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Gly604Arg",
"transcript": "ENST00000892871.1",
"protein_id": "ENSP00000562930.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 755,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892871.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.1822G>A",
"hgvs_p": "p.Gly608Arg",
"transcript": "ENST00000417999.5",
"protein_id": "ENSP00000392046.1",
"transcript_support_level": 5,
"aa_start": 608,
"aa_end": null,
"aa_length": 683,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417999.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Gly144Arg",
"transcript": "ENST00000892870.1",
"protein_id": "ENSP00000562929.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 295,
"cds_start": 430,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892870.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Gly108Arg",
"transcript": "ENST00000455425.1",
"protein_id": "ENSP00000412359.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 251,
"cds_start": 322,
"cds_end": null,
"cds_length": 758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455425.1"
}
],
"gene_symbol": "CHADL",
"gene_hgnc_id": 25165,
"dbsnp": "rs772146480",
"frequency_reference_population": 0.000016125538,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000157358,
"gnomad_genomes_af": 0.0000197042,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15813621878623962,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.1237,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.943,
"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_138481.2",
"gene_symbol": "CHADL",
"hgnc_id": 25165,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1831G>A",
"hgvs_p": "p.Gly611Arg"
}
],
"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
}