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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: 17-41624214-AGGTAGGAGGCCAGGC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41624214&ref=AGGTAGGAGGCCAGGC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41624214,
"ref": "AGGTAGGAGGCCAGGC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000311208.13",
"consequences": [
{
"aa_ref": "RLASYL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "c.281_295delGCCTGGCCTCCTACC",
"hgvs_p": "p.Arg94_Tyr98del",
"transcript": "NM_000422.3",
"protein_id": "NP_000413.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 432,
"cds_start": 281,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": "ENST00000311208.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLASYL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "c.281_295delGCCTGGCCTCCTACC",
"hgvs_p": "p.Arg94_Tyr98del",
"transcript": "ENST00000311208.13",
"protein_id": "ENSP00000308452.8",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 432,
"cds_start": 281,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": "NM_000422.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RLASYL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "c.236_250delGCCTGGCCTCCTACC",
"hgvs_p": "p.Arg79_Tyr83del",
"transcript": "ENST00000577817.3",
"protein_id": "ENSP00000467418.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 230,
"cds_start": 236,
"cds_end": null,
"cds_length": 695,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "n.347_361delGCCTGGCCTCCTACC",
"hgvs_p": null,
"transcript": "ENST00000491673.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "n.68_82delGCCTGGCCTCCTACC",
"hgvs_p": null,
"transcript": "ENST00000493253.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"hgvs_c": "c.-312-23_-312-9delGCCTGGCCTCCTACC",
"hgvs_p": null,
"transcript": "ENST00000463128.5",
"protein_id": "ENSP00000468672.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRT17",
"gene_hgnc_id": 6427,
"dbsnp": "rs57674130",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM4",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000311208.13",
"gene_symbol": "KRT17",
"hgnc_id": 6427,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.281_295delGCCTGGCCTCCTACC",
"hgvs_p": "p.Arg94_Tyr98del"
}
],
"clinvar_disease": "Pachyonychia congenita 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Pachyonychia congenita 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}