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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: 12-123756941-TCA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123756941&ref=TCA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123756941,
"ref": "TCA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000330342.8",
"consequences": [
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.2421_2422delCA",
"hgvs_p": "p.Met808fs",
"transcript": "NM_012463.4",
"protein_id": "NP_036595.2",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 856,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 6507,
"mane_select": "ENST00000330342.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.2421_2422delCA",
"hgvs_p": "p.Met808fs",
"transcript": "ENST00000330342.8",
"protein_id": "ENSP00000332247.2",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 856,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 6507,
"mane_select": "NM_012463.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.267_268delCA",
"hgvs_p": "p.Met90fs",
"transcript": "ENST00000544833.1",
"protein_id": "ENSP00000441143.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 138,
"cds_start": 267,
"cds_end": null,
"cds_length": 417,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.261_262delCA",
"hgvs_p": "p.Met88fs",
"transcript": "ENST00000534943.5",
"protein_id": "ENSP00000443726.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 130,
"cds_start": 261,
"cds_end": null,
"cds_length": 394,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.2301_2302delCA",
"hgvs_p": "p.Met768fs",
"transcript": "XM_024448910.2",
"protein_id": "XP_024304678.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 816,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.1908_1909delCA",
"hgvs_p": "p.Met637fs",
"transcript": "XM_024448911.2",
"protein_id": "XP_024304679.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 685,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "c.1599_1600delCA",
"hgvs_p": "p.Met534fs",
"transcript": "XM_024448912.2",
"protein_id": "XP_024304680.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 582,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "n.616_617delCA",
"hgvs_p": null,
"transcript": "ENST00000543687.1",
"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": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "n.*1442_*1443delCA",
"hgvs_p": null,
"transcript": "ENST00000675344.1",
"protein_id": "ENSP00000501953.1",
"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": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"hgvs_c": "n.*1442_*1443delCA",
"hgvs_p": null,
"transcript": "ENST00000675344.1",
"protein_id": "ENSP00000501953.1",
"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": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP6V0A2",
"gene_hgnc_id": 18481,
"dbsnp": "rs80356757",
"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": 0.07000000029802322,
"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": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000330342.8",
"gene_symbol": "ATP6V0A2",
"hgnc_id": 18481,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2421_2422delCA",
"hgvs_p": "p.Met808fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}