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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: 1-1338053-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1338053&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1338053,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000378888.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1637delC",
"hgvs_p": "p.Pro546fs",
"transcript": "NM_001330311.2",
"protein_id": "NP_001317240.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 695,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": "ENST00000378888.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1637delC",
"hgvs_p": "p.Pro546fs",
"transcript": "ENST00000378888.10",
"protein_id": "ENSP00000368166.5",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 695,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": "NM_001330311.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1562delC",
"hgvs_p": "p.Pro521fs",
"transcript": "ENST00000378891.9",
"protein_id": "ENSP00000368169.5",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 670,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1562delC",
"hgvs_p": "p.Pro521fs",
"transcript": "NM_004421.3",
"protein_id": "NP_004412.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 670,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.668delC",
"hgvs_p": "p.Pro223fs",
"transcript": "ENST00000631679.1",
"protein_id": "ENSP00000488181.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 251,
"cds_start": 668,
"cds_end": null,
"cds_length": 756,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.566delC",
"hgvs_p": "p.Pro189fs",
"transcript": "ENST00000632445.1",
"protein_id": "ENSP00000488888.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 217,
"cds_start": 566,
"cds_end": null,
"cds_length": 654,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1637delC",
"hgvs_p": "p.Pro546fs",
"transcript": "XM_005244732.5",
"protein_id": "XP_005244789.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 574,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.1562delC",
"hgvs_p": "p.Pro521fs",
"transcript": "XM_005244733.5",
"protein_id": "XP_005244790.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 549,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"hgvs_c": "c.713delC",
"hgvs_p": "p.Pro238fs",
"transcript": "XM_047448090.1",
"protein_id": "XP_047304046.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 387,
"cds_start": 713,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DVL1",
"gene_hgnc_id": 3084,
"dbsnp": "rs797044839",
"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": 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": 3.992,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000378888.10",
"gene_symbol": "DVL1",
"hgnc_id": 3084,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1637delC",
"hgvs_p": "p.Pro546fs"
}
],
"clinvar_disease": "Autosomal dominant Robinow syndrome 1,Autosomal dominant Robinow syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Autosomal dominant Robinow syndrome 2|Autosomal dominant Robinow syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}