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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: 20-37732936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37732936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37732936,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030877.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp",
"transcript": "NM_030877.5",
"protein_id": "NP_110517.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 563,
"cds_start": 88,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361383.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030877.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp",
"transcript": "ENST00000361383.11",
"protein_id": "ENSP00000355050.6",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 563,
"cds_start": 88,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030877.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361383.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000628103.2",
"protein_id": "ENSP00000487198.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 536,
"cds_start": 7,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628103.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000447935.3",
"protein_id": "ENSP00000394464.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 165,
"cds_start": 7,
"cds_end": null,
"cds_length": 499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447935.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp",
"transcript": "ENST00000883422.1",
"protein_id": "ENSP00000553481.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 560,
"cds_start": 88,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883422.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp",
"transcript": "ENST00000883423.1",
"protein_id": "ENSP00000553482.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 547,
"cds_start": 88,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883423.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001281495.2",
"protein_id": "NP_001268424.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 536,
"cds_start": 7,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281495.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp",
"transcript": "ENST00000883421.1",
"protein_id": "ENSP00000553480.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 519,
"cds_start": 88,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883421.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "XM_024451947.2",
"protein_id": "XP_024307715.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 536,
"cds_start": 7,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451947.2"
}
],
"gene_symbol": "CTNNBL1",
"gene_hgnc_id": 15879,
"dbsnp": "rs202016331",
"frequency_reference_population": 0.000006841293,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684129,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.265342652797699,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.1281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.642,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030877.5",
"gene_symbol": "CTNNBL1",
"hgnc_id": 15879,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.Arg30Trp"
}
],
"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
}