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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: 16-22347576-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=22347576&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 22347576,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001802.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Ala252Pro",
"transcript": "NM_001802.2",
"protein_id": "NP_001793.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 454,
"cds_start": 754,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268383.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001802.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Ala252Pro",
"transcript": "ENST00000268383.7",
"protein_id": "ENSP00000268383.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 454,
"cds_start": 754,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001802.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268383.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Ala247Pro",
"transcript": "ENST00000961655.1",
"protein_id": "ENSP00000631714.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 449,
"cds_start": 739,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961655.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Ala201Pro",
"transcript": "ENST00000564542.5",
"protein_id": "ENSP00000457432.1",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 233,
"cds_start": 601,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564542.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.529G>C",
"hgvs_p": "p.Ala177Pro",
"transcript": "XM_024450143.2",
"protein_id": "XP_024305911.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 379,
"cds_start": 529,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450143.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "c.*179G>C",
"hgvs_p": null,
"transcript": "ENST00000567406.5",
"protein_id": "ENSP00000457289.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"hgvs_c": "n.*500G>C",
"hgvs_p": null,
"transcript": "ENST00000561630.1",
"protein_id": "ENSP00000455915.1",
"transcript_support_level": 5,
"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": "ENST00000561630.1"
}
],
"gene_symbol": "CDR2",
"gene_hgnc_id": 1799,
"dbsnp": "rs1389496564",
"frequency_reference_population": 0.000015489006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000136814,
"gnomad_genomes_af": 0.0000328502,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2275254726409912,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.8112,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.358,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001802.2",
"gene_symbol": "CDR2",
"hgnc_id": 1799,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Ala252Pro"
}
],
"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
}