← Back to variant description
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: 8-41725833-CGCGATGTGCAGGGCCGGGAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=41725833&ref=CGCGATGTGCAGGGCCGGGAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 41725833,
"ref": "CGCGATGTGCAGGGCCGGGAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000289734.13",
"consequences": [
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "NM_000037.4",
"protein_id": "NP_000028.3",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1880,
"cds_start": 520,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "ENST00000289734.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "ENST00000289734.13",
"protein_id": "ENSP00000289734.8",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 1880,
"cds_start": 520,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8292,
"mane_select": "NM_000037.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.619_638delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu207fs",
"transcript": "ENST00000265709.14",
"protein_id": "ENSP00000265709.8",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 1897,
"cds_start": 619,
"cds_end": null,
"cds_length": 5694,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "ENST00000347528.8",
"protein_id": "ENSP00000339620.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 1881,
"cds_start": 520,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.715_734delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu239fs",
"transcript": "ENST00000705521.1",
"protein_id": "ENSP00000516136.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1953,
"cds_start": 715,
"cds_end": null,
"cds_length": 5862,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.619_638delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu207fs",
"transcript": "NM_001142446.2",
"protein_id": "NP_001135918.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1897,
"cds_start": 619,
"cds_end": null,
"cds_length": 5694,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "NM_020476.3",
"protein_id": "NP_065209.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1881,
"cds_start": 520,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "NM_020475.3",
"protein_id": "NP_065208.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1856,
"cds_start": 520,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.532_551delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu178fs",
"transcript": "ENST00000705522.1",
"protein_id": "ENSP00000516137.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 1854,
"cds_start": 532,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LPALHIA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs",
"transcript": "NM_020477.3",
"protein_id": "NP_065210.2",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1719,
"cds_start": 520,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 7746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK1",
"gene_hgnc_id": 492,
"dbsnp": "rs786205244",
"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": 9.993,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000289734.13",
"gene_symbol": "ANK1",
"hgnc_id": 492,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.520_539delCTCCCGGCCCTGCACATCGC",
"hgvs_p": "p.Leu174fs"
}
],
"clinvar_disease": " AUTOSOMAL RECESSIVE, TYPE 1,SPHEROCYTOSIS",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}