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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: 18-10762939-AGAAGTTCTCAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=10762939&ref=AGAAGTTCTCAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 10762939,
"ref": "AGAAGTTCTCAG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001378183.1",
"consequences": [
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3095_3105delCTGAGAACTTC",
"hgvs_p": "p.Pro1032fs",
"transcript": "NM_001378183.1",
"protein_id": "NP_001365112.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 2865,
"cds_start": 3095,
"cds_end": null,
"cds_length": 8598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674853.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378183.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3095_3105delCTGAGAACTTC",
"hgvs_p": "p.Pro1032fs",
"transcript": "ENST00000674853.1",
"protein_id": "ENSP00000501957.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 2865,
"cds_start": 3095,
"cds_end": null,
"cds_length": 8598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378183.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674853.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3020_3030delCTGAGAACTTC",
"hgvs_p": "p.Pro1007fs",
"transcript": "ENST00000503781.7",
"protein_id": "ENSP00000421377.3",
"transcript_support_level": 1,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2752,
"cds_start": 3020,
"cds_end": null,
"cds_length": 8259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503781.7"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3095_3105delCTGAGAACTTC",
"hgvs_p": "p.Pro1032fs",
"transcript": "NM_001410871.1",
"protein_id": "NP_001397800.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 2777,
"cds_start": 3095,
"cds_end": null,
"cds_length": 8334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410871.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3095_3105delCTGAGAACTTC",
"hgvs_p": "p.Pro1032fs",
"transcript": "ENST00000580640.5",
"protein_id": "ENSP00000463094.1",
"transcript_support_level": 5,
"aa_start": 1032,
"aa_end": null,
"aa_length": 2777,
"cds_start": 3095,
"cds_end": null,
"cds_length": 8334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580640.5"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3020_3030delCTGAGAACTTC",
"hgvs_p": "p.Pro1007fs",
"transcript": "NM_022068.4",
"protein_id": "NP_071351.2",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2752,
"cds_start": 3020,
"cds_end": null,
"cds_length": 8259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022068.4"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3020_3030delCTGAGAACTTC",
"hgvs_p": "p.Pro1007fs",
"transcript": "ENST00000302079.10",
"protein_id": "ENSP00000303316.6",
"transcript_support_level": 5,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2689,
"cds_start": 3020,
"cds_end": null,
"cds_length": 8070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302079.10"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3152_3162delCTGAGAACTTC",
"hgvs_p": "p.Pro1051fs",
"transcript": "XM_011525723.4",
"protein_id": "XP_011524025.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2796,
"cds_start": 3152,
"cds_end": null,
"cds_length": 8391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525723.4"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3113_3123delCTGAGAACTTC",
"hgvs_p": "p.Pro1038fs",
"transcript": "XM_017025918.3",
"protein_id": "XP_016881407.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 2783,
"cds_start": 3113,
"cds_end": null,
"cds_length": 8352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025918.3"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3062_3072delCTGAGAACTTC",
"hgvs_p": "p.Pro1021fs",
"transcript": "XM_011525725.4",
"protein_id": "XP_011524027.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 2766,
"cds_start": 3062,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525725.4"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.2981_2991delCTGAGAACTTC",
"hgvs_p": "p.Pro994fs",
"transcript": "XM_047437735.1",
"protein_id": "XP_047293691.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 2739,
"cds_start": 2981,
"cds_end": null,
"cds_length": 8220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437735.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3152_3162delCTGAGAACTTC",
"hgvs_p": "p.Pro1051fs",
"transcript": "XM_011525726.4",
"protein_id": "XP_011524028.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2735,
"cds_start": 3152,
"cds_end": null,
"cds_length": 8208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525726.4"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3020_3030delCTGAGAACTTC",
"hgvs_p": "p.Pro1007fs",
"transcript": "XM_047437736.1",
"protein_id": "XP_047293692.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2691,
"cds_start": 3020,
"cds_end": null,
"cds_length": 8076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437736.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3152_3162delCTGAGAACTTC",
"hgvs_p": "p.Pro1051fs",
"transcript": "XM_047437737.1",
"protein_id": "XP_047293693.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2558,
"cds_start": 3152,
"cds_end": null,
"cds_length": 7677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437737.1"
},
{
"aa_ref": "PENF",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.3020_3030delCTGAGAACTTC",
"hgvs_p": "p.Pro1007fs",
"transcript": "XM_047437738.1",
"protein_id": "XP_047293694.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1977,
"cds_start": 3020,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.3095_3105delCTGAGAACTTC",
"hgvs_p": null,
"transcript": "ENST00000383408.7",
"protein_id": "ENSP00000372900.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383408.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.3062_3072delCTGAGAACTTC",
"hgvs_p": null,
"transcript": "ENST00000582913.5",
"protein_id": "ENSP00000462115.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.3152_3162delCTGAGAACTTC",
"hgvs_p": null,
"transcript": "ENST00000686869.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686869.1"
}
],
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"dbsnp": "rs1057519626",
"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": 10.003,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001378183.1",
"gene_symbol": "PIEZO2",
"hgnc_id": 26270,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3095_3105delCTGAGAACTTC",
"hgvs_p": "p.Pro1032fs"
}
],
"clinvar_disease": " distal, with impaired proprioception and touch,Arthrogryposis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Arthrogryposis, distal, with impaired proprioception and touch",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}