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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: 19-18749822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18749822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18749822,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015321.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Pro162Leu",
"transcript": "NM_015321.3",
"protein_id": "NP_056136.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 634,
"cds_start": 485,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "ENST00000321949.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Pro162Leu",
"transcript": "ENST00000321949.13",
"protein_id": "ENSP00000323332.7",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 634,
"cds_start": 485,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "NM_015321.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "ENST00000338797.10",
"protein_id": "ENSP00000345001.5",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 650,
"cds_start": 533,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000594658.5",
"protein_id": "ENSP00000468893.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 593,
"cds_start": 362,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "NM_001098482.2",
"protein_id": "NP_001091952.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 650,
"cds_start": 533,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"transcript": "ENST00000601916.1",
"protein_id": "ENSP00000469285.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 392,
"cds_start": 260,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"dbsnp": "rs202136992",
"frequency_reference_population": 0.0000030979586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": 0.0000131409,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7891428470611572,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.414,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1438,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.288,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015321.3",
"gene_symbol": "CRTC1",
"hgnc_id": 16062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Pro162Leu"
}
],
"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
}