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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: 2-26421374-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26421374&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DRC1",
"hgnc_id": 24245,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Val110Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_145038.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 111,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 740,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 400,
"cds_end": null,
"cds_length": 2223,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145038.5",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Val110Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288710.7",
"protein_coding": true,
"protein_id": "NP_659475.2",
"strand": true,
"transcript": "NM_145038.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 740,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 400,
"cds_end": null,
"cds_length": 2223,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000288710.7",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Val110Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145038.5",
"protein_coding": true,
"protein_id": "ENSP00000288710.2",
"strand": true,
"transcript": "ENST00000288710.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000421869.5",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.330C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000414375.1",
"strand": true,
"transcript": "ENST00000421869.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2148,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868388.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Val110Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538447.1",
"strand": true,
"transcript": "ENST00000868388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941553.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "c.243+6943C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611612.1",
"strand": true,
"transcript": "ENST00000941553.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000487307.5",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.221C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487307.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000497651.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.220C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497651.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649059.1",
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"hgvs_c": "n.315C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497543.1",
"strand": true,
"transcript": "ENST00000649059.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146060843",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00006881152,
"gene_hgnc_id": 24245,
"gene_symbol": "DRC1",
"gnomad_exomes_ac": 102,
"gnomad_exomes_af": 0.0000698125,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000591926,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Primary ciliary dyskinesia",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.793,
"pos": 26421374,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145038.5"
}
]
}