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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: 19-18765446-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18765446&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18765446,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015321.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "NM_015321.3",
"protein_id": "NP_056136.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 634,
"cds_start": 929,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "ENST00000321949.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala",
"transcript": "ENST00000321949.13",
"protein_id": "ENSP00000323332.7",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 634,
"cds_start": 929,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "NM_015321.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.977G>C",
"hgvs_p": "p.Gly326Ala",
"transcript": "ENST00000338797.10",
"protein_id": "ENSP00000345001.5",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 650,
"cds_start": 977,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.806G>C",
"hgvs_p": "p.Gly269Ala",
"transcript": "ENST00000594658.5",
"protein_id": "ENSP00000468893.1",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 593,
"cds_start": 806,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.977G>C",
"hgvs_p": "p.Gly326Ala",
"transcript": "NM_001098482.2",
"protein_id": "NP_001091952.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 650,
"cds_start": 977,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"hgvs_c": "c.704G>C",
"hgvs_p": "p.Gly235Ala",
"transcript": "ENST00000601916.1",
"protein_id": "ENSP00000469285.1",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 392,
"cds_start": 704,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRTC1",
"gene_hgnc_id": 16062,
"dbsnp": "rs770215721",
"frequency_reference_population": 0.000006161539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616154,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03686922788619995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.187,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015321.3",
"gene_symbol": "CRTC1",
"hgnc_id": 16062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.929G>C",
"hgvs_p": "p.Gly310Ala"
}
],
"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
}