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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: 19-4817657-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4817657&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4817657,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000248244.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Glu241Gln",
"transcript": "NM_182919.4",
"protein_id": "NP_891549.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 712,
"cds_start": 721,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "ENST00000248244.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Glu241Gln",
"transcript": "ENST00000248244.6",
"protein_id": "ENSP00000248244.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 712,
"cds_start": 721,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "NM_182919.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "NM_001385678.1",
"protein_id": "NP_001372607.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 698,
"cds_start": 679,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Glu196Gln",
"transcript": "NM_001385679.1",
"protein_id": "NP_001372608.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 586,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"hgvs_c": "c.79G>C",
"hgvs_p": "p.Glu27Gln",
"transcript": "NM_001385680.1",
"protein_id": "NP_001372609.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 498,
"cds_start": 79,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TICAM1",
"gene_hgnc_id": 18348,
"dbsnp": "rs370487475",
"frequency_reference_population": 0.0000020971072,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000209711,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08927109837532043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.565,
"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": "ENST00000248244.6",
"gene_symbol": "TICAM1",
"hgnc_id": 18348,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Glu241Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}