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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: 18-10763009-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=10763009&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 10763009,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000674853.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3036A>C",
"hgvs_p": "p.Thr1012Thr",
"transcript": "NM_001378183.1",
"protein_id": "NP_001365112.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2865,
"cds_start": 3036,
"cds_end": null,
"cds_length": 8598,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": "ENST00000674853.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3036A>C",
"hgvs_p": "p.Thr1012Thr",
"transcript": "ENST00000674853.1",
"protein_id": "ENSP00000501957.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2865,
"cds_start": 3036,
"cds_end": null,
"cds_length": 8598,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": "NM_001378183.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2961A>C",
"hgvs_p": "p.Thr987Thr",
"transcript": "ENST00000503781.7",
"protein_id": "ENSP00000421377.3",
"transcript_support_level": 1,
"aa_start": 987,
"aa_end": null,
"aa_length": 2752,
"cds_start": 2961,
"cds_end": null,
"cds_length": 8259,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3036A>C",
"hgvs_p": "p.Thr1012Thr",
"transcript": "NM_001410871.1",
"protein_id": "NP_001397800.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2777,
"cds_start": 3036,
"cds_end": null,
"cds_length": 8334,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 10595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3036A>C",
"hgvs_p": "p.Thr1012Thr",
"transcript": "ENST00000580640.5",
"protein_id": "ENSP00000463094.1",
"transcript_support_level": 5,
"aa_start": 1012,
"aa_end": null,
"aa_length": 2777,
"cds_start": 3036,
"cds_end": null,
"cds_length": 8334,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 8334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2961A>C",
"hgvs_p": "p.Thr987Thr",
"transcript": "NM_022068.4",
"protein_id": "NP_071351.2",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 2752,
"cds_start": 2961,
"cds_end": null,
"cds_length": 8259,
"cdna_start": 3942,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2961A>C",
"hgvs_p": "p.Thr987Thr",
"transcript": "ENST00000302079.10",
"protein_id": "ENSP00000303316.6",
"transcript_support_level": 5,
"aa_start": 987,
"aa_end": null,
"aa_length": 2689,
"cds_start": 2961,
"cds_end": null,
"cds_length": 8070,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 9356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3093A>C",
"hgvs_p": "p.Thr1031Thr",
"transcript": "XM_011525723.4",
"protein_id": "XP_011524025.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 2796,
"cds_start": 3093,
"cds_end": null,
"cds_length": 8391,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3054A>C",
"hgvs_p": "p.Thr1018Thr",
"transcript": "XM_017025918.3",
"protein_id": "XP_016881407.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2783,
"cds_start": 3054,
"cds_end": null,
"cds_length": 8352,
"cdna_start": 4035,
"cdna_end": null,
"cdna_length": 10613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3003A>C",
"hgvs_p": "p.Thr1001Thr",
"transcript": "XM_011525725.4",
"protein_id": "XP_011524027.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 2766,
"cds_start": 3003,
"cds_end": null,
"cds_length": 8301,
"cdna_start": 3984,
"cdna_end": null,
"cdna_length": 10562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2922A>C",
"hgvs_p": "p.Thr974Thr",
"transcript": "XM_047437735.1",
"protein_id": "XP_047293691.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 2739,
"cds_start": 2922,
"cds_end": null,
"cds_length": 8220,
"cdna_start": 3903,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3093A>C",
"hgvs_p": "p.Thr1031Thr",
"transcript": "XM_011525726.4",
"protein_id": "XP_011524028.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 2735,
"cds_start": 3093,
"cds_end": null,
"cds_length": 8208,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 10469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2961A>C",
"hgvs_p": "p.Thr987Thr",
"transcript": "XM_047437736.1",
"protein_id": "XP_047293692.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 2691,
"cds_start": 2961,
"cds_end": null,
"cds_length": 8076,
"cdna_start": 3942,
"cdna_end": null,
"cdna_length": 10337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3093A>C",
"hgvs_p": "p.Thr1031Thr",
"transcript": "XM_047437737.1",
"protein_id": "XP_047293693.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 2558,
"cds_start": 3093,
"cds_end": null,
"cds_length": 7677,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2961A>C",
"hgvs_p": "p.Thr987Thr",
"transcript": "XM_047437738.1",
"protein_id": "XP_047293694.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1977,
"cds_start": 2961,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 3942,
"cdna_end": null,
"cdna_length": 7017,
"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": 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.3036A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9523,
"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": 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.3003A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8465,
"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": 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.3093A>C",
"hgvs_p": null,
"transcript": "ENST00000686869.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"dbsnp": "rs7227167",
"frequency_reference_population": 7.220436e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.22044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.382,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000674853.1",
"gene_symbol": "PIEZO2",
"hgnc_id": 26270,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3036A>C",
"hgvs_p": "p.Thr1012Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}