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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: 18-10699089-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=10699089&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 10699089,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000674853.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6530G>C",
"hgvs_p": "p.Arg2177Thr",
"transcript": "NM_001378183.1",
"protein_id": "NP_001365112.1",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 2865,
"cds_start": 6530,
"cds_end": null,
"cds_length": 8598,
"cdna_start": 7511,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": "ENST00000674853.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6530G>C",
"hgvs_p": "p.Arg2177Thr",
"transcript": "ENST00000674853.1",
"protein_id": "ENSP00000501957.1",
"transcript_support_level": null,
"aa_start": 2177,
"aa_end": null,
"aa_length": 2865,
"cds_start": 6530,
"cds_end": null,
"cds_length": 8598,
"cdna_start": 7511,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": "NM_001378183.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6191G>C",
"hgvs_p": "p.Arg2064Thr",
"transcript": "ENST00000503781.7",
"protein_id": "ENSP00000421377.3",
"transcript_support_level": 1,
"aa_start": 2064,
"aa_end": null,
"aa_length": 2752,
"cds_start": 6191,
"cds_end": null,
"cds_length": 8259,
"cdna_start": 6191,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6266G>C",
"hgvs_p": "p.Arg2089Thr",
"transcript": "NM_001410871.1",
"protein_id": "NP_001397800.1",
"transcript_support_level": null,
"aa_start": 2089,
"aa_end": null,
"aa_length": 2777,
"cds_start": 6266,
"cds_end": null,
"cds_length": 8334,
"cdna_start": 7247,
"cdna_end": null,
"cdna_length": 10595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6266G>C",
"hgvs_p": "p.Arg2089Thr",
"transcript": "ENST00000580640.5",
"protein_id": "ENSP00000463094.1",
"transcript_support_level": 5,
"aa_start": 2089,
"aa_end": null,
"aa_length": 2777,
"cds_start": 6266,
"cds_end": null,
"cds_length": 8334,
"cdna_start": 6266,
"cdna_end": null,
"cdna_length": 8334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6191G>C",
"hgvs_p": "p.Arg2064Thr",
"transcript": "NM_022068.4",
"protein_id": "NP_071351.2",
"transcript_support_level": null,
"aa_start": 2064,
"aa_end": null,
"aa_length": 2752,
"cds_start": 6191,
"cds_end": null,
"cds_length": 8259,
"cdna_start": 7172,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6191G>C",
"hgvs_p": "p.Arg2064Thr",
"transcript": "ENST00000302079.10",
"protein_id": "ENSP00000303316.6",
"transcript_support_level": 5,
"aa_start": 2064,
"aa_end": null,
"aa_length": 2689,
"cds_start": 6191,
"cds_end": null,
"cds_length": 8070,
"cdna_start": 6191,
"cdna_end": null,
"cdna_length": 9356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6323G>C",
"hgvs_p": "p.Arg2108Thr",
"transcript": "XM_011525723.4",
"protein_id": "XP_011524025.1",
"transcript_support_level": null,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2796,
"cds_start": 6323,
"cds_end": null,
"cds_length": 8391,
"cdna_start": 7304,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6284G>C",
"hgvs_p": "p.Arg2095Thr",
"transcript": "XM_017025918.3",
"protein_id": "XP_016881407.1",
"transcript_support_level": null,
"aa_start": 2095,
"aa_end": null,
"aa_length": 2783,
"cds_start": 6284,
"cds_end": null,
"cds_length": 8352,
"cdna_start": 7265,
"cdna_end": null,
"cdna_length": 10613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6233G>C",
"hgvs_p": "p.Arg2078Thr",
"transcript": "XM_011525725.4",
"protein_id": "XP_011524027.1",
"transcript_support_level": null,
"aa_start": 2078,
"aa_end": null,
"aa_length": 2766,
"cds_start": 6233,
"cds_end": null,
"cds_length": 8301,
"cdna_start": 7214,
"cdna_end": null,
"cdna_length": 10562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6152G>C",
"hgvs_p": "p.Arg2051Thr",
"transcript": "XM_047437735.1",
"protein_id": "XP_047293691.1",
"transcript_support_level": null,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2739,
"cds_start": 6152,
"cds_end": null,
"cds_length": 8220,
"cdna_start": 7133,
"cdna_end": null,
"cdna_length": 10481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6140G>C",
"hgvs_p": "p.Arg2047Thr",
"transcript": "XM_011525726.4",
"protein_id": "XP_011524028.1",
"transcript_support_level": null,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2735,
"cds_start": 6140,
"cds_end": null,
"cds_length": 8208,
"cdna_start": 7121,
"cdna_end": null,
"cdna_length": 10469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6008G>C",
"hgvs_p": "p.Arg2003Thr",
"transcript": "XM_047437736.1",
"protein_id": "XP_047293692.1",
"transcript_support_level": null,
"aa_start": 2003,
"aa_end": null,
"aa_length": 2691,
"cds_start": 6008,
"cds_end": null,
"cds_length": 8076,
"cdna_start": 6989,
"cdna_end": null,
"cdna_length": 10337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "c.6323G>C",
"hgvs_p": "p.Arg2108Thr",
"transcript": "XM_047437737.1",
"protein_id": "XP_047293693.1",
"transcript_support_level": null,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2558,
"cds_start": 6323,
"cds_end": null,
"cds_length": 7677,
"cdna_start": 7304,
"cdna_end": null,
"cdna_length": 8779,
"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": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.6266G>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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.202G>C",
"hgvs_p": null,
"transcript": "ENST00000538948.5",
"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": 2671,
"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": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.*1975G>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": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.1269G>C",
"hgvs_p": null,
"transcript": "ENST00000685517.1",
"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": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"hgvs_c": "n.*1975G>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
}
],
"gene_symbol": "PIEZO2",
"gene_hgnc_id": 26270,
"dbsnp": "rs79992793",
"frequency_reference_population": 0.0059307436,
"hom_count_reference_population": 141,
"allele_count_reference_population": 9117,
"gnomad_exomes_af": 0.00596928,
"gnomad_genomes_af": 0.00558036,
"gnomad_exomes_ac": 8267,
"gnomad_genomes_ac": 850,
"gnomad_exomes_homalt": 127,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0024601519107818604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.737,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000674853.1",
"gene_symbol": "PIEZO2",
"hgnc_id": 26270,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6530G>C",
"hgvs_p": "p.Arg2177Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}