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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: 17-11598799-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11598799&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11598799,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000262442.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "NM_001372.4",
"protein_id": "NP_001363.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 4486,
"cds_start": 308,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "ENST00000262442.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "ENST00000262442.9",
"protein_id": "ENSP00000262442.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 4486,
"cds_start": 308,
"cds_end": null,
"cds_length": 13461,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 13711,
"mane_select": "NM_001372.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "n.335delT",
"hgvs_p": null,
"transcript": "ENST00000579406.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "ENST00000454412.6",
"protein_id": "ENSP00000414874.2",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 4410,
"cds_start": 308,
"cds_end": null,
"cds_length": 13233,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 13452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "ENST00000579828.5",
"protein_id": "ENSP00000463782.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 319,
"cds_start": 308,
"cds_end": null,
"cds_length": 960,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "XM_011523703.3",
"protein_id": "XP_011522005.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 4501,
"cds_start": 308,
"cds_end": null,
"cds_length": 13506,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 13756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "XM_017024292.3",
"protein_id": "XP_016879781.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 4462,
"cds_start": 308,
"cds_end": null,
"cds_length": 13389,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 13639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "XM_017024294.2",
"protein_id": "XP_016879783.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 3362,
"cds_start": 308,
"cds_end": null,
"cds_length": 10089,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 10217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs",
"transcript": "XM_017024295.2",
"protein_id": "XP_016879784.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 2548,
"cds_start": 308,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH9",
"gene_hgnc_id": 2953,
"dbsnp": "rs769795916",
"frequency_reference_population": 0.0006001103,
"hom_count_reference_population": 1,
"allele_count_reference_population": 888,
"gnomad_exomes_af": 0.00061393,
"gnomad_genomes_af": 0.000479582,
"gnomad_exomes_ac": 815,
"gnomad_genomes_ac": 73,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.465,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262442.9",
"gene_symbol": "DNAH9",
"hgnc_id": 2953,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.308delT",
"hgvs_p": "p.Phe103fs"
}
],
"clinvar_disease": " 40, primary,Ciliary dyskinesia,DNAH9-related disorder,Primary ciliary dyskinesia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2 US:1",
"phenotype_combined": "not provided|DNAH9-related disorder|Ciliary dyskinesia, primary, 40|Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}