← Back to variant description
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: 19-18747096-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18747096&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18747096,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015321.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "NM_015321.3",
"protein_id": "NP_056136.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 634,
"cds_start": 425,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "ENST00000321949.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "ENST00000321949.13",
"protein_id": "ENSP00000323332.7",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 634,
"cds_start": 425,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "NM_015321.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"transcript": "ENST00000338797.10",
"protein_id": "ENSP00000345001.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 650,
"cds_start": 473,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000594658.5",
"protein_id": "ENSP00000468893.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 593,
"cds_start": 302,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"transcript": "NM_001098482.2",
"protein_id": "NP_001091952.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 650,
"cds_start": 473,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"transcript": "ENST00000601916.1",
"protein_id": "ENSP00000469285.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 392,
"cds_start": 200,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"dbsnp": "rs759854241",
"frequency_reference_population": 0.000013039137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.00000684827,
"gnomad_genomes_af": 0.0000731801,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16375762224197388,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.288,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015321.3",
"gene_symbol": "CRTC1",
"hgnc_id": 16062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val"
}
],
"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
}