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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: 9-34500738-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34500738&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DNAI1",
"hgnc_id": 2954,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asp310Asp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001281428.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "9",
"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": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 699,
"aa_ref": "D",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2100,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_012144.4",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242317.9",
"protein_coding": true,
"protein_id": "NP_036276.1",
"strand": true,
"transcript": "NM_012144.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 699,
"aa_ref": "D",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2100,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000242317.9",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012144.4",
"protein_coding": true,
"protein_id": "ENSP00000242317.4",
"strand": true,
"transcript": "ENST00000242317.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 730,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1011,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878474.1",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.1011C>T",
"hgvs_p": "p.Asp337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548533.1",
"strand": true,
"transcript": "ENST00000878474.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 703,
"aa_ref": "D",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 2112,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001281428.2",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asp310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268357.1",
"strand": true,
"transcript": "NM_001281428.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 703,
"aa_ref": "D",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 2112,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000614641.4",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Asp310Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480538.1",
"strand": true,
"transcript": "ENST00000614641.4",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 613,
"aa_ref": "D",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1842,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878476.1",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548535.1",
"strand": true,
"transcript": "ENST00000878476.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 479,
"aa_ref": "D",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1440,
"cds_start": 918,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878475.1",
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548534.1",
"strand": true,
"transcript": "ENST00000878475.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772207177",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000016113958,
"gene_hgnc_id": 2954,
"gene_symbol": "DNAI1",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116328,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000591638,
"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": 1.315,
"pos": 34500738,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001281428.2"
}
]
}