← Back to variant description
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: 9-136429711-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136429711&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136429711,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_019892.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1897_1898delCA",
"hgvs_p": "p.Gln633fs",
"transcript": "NM_019892.6",
"protein_id": "NP_063945.2",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 644,
"cds_start": 1897,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371712.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019892.6"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1897_1898delCA",
"hgvs_p": "p.Gln633fs",
"transcript": "ENST00000371712.4",
"protein_id": "ENSP00000360777.3",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 644,
"cds_start": 1897,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019892.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371712.4"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1918_1919delCA",
"hgvs_p": "p.Gln640fs",
"transcript": "ENST00000930360.1",
"protein_id": "ENSP00000600419.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 651,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930360.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1894_1895delCA",
"hgvs_p": "p.Gln632fs",
"transcript": "NM_001318502.2",
"protein_id": "NP_001305431.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 643,
"cds_start": 1894,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318502.2"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1894_1895delCA",
"hgvs_p": "p.Gln632fs",
"transcript": "ENST00000910890.1",
"protein_id": "ENSP00000580949.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 643,
"cds_start": 1894,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910890.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1894_1895delCA",
"hgvs_p": "p.Gln632fs",
"transcript": "ENST00000960334.1",
"protein_id": "ENSP00000630393.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 643,
"cds_start": 1894,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960334.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1861_1862delCA",
"hgvs_p": "p.Gln621fs",
"transcript": "ENST00000930356.1",
"protein_id": "ENSP00000600415.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 632,
"cds_start": 1861,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930356.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1858_1859delCA",
"hgvs_p": "p.Gln620fs",
"transcript": "ENST00000930357.1",
"protein_id": "ENSP00000600416.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 631,
"cds_start": 1858,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930357.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1855_1856delCA",
"hgvs_p": "p.Gln619fs",
"transcript": "ENST00000960335.1",
"protein_id": "ENSP00000630394.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 630,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960335.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1852_1853delCA",
"hgvs_p": "p.Gln618fs",
"transcript": "ENST00000930359.1",
"protein_id": "ENSP00000600418.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 629,
"cds_start": 1852,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930359.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1795_1796delCA",
"hgvs_p": "p.Gln599fs",
"transcript": "ENST00000676019.1",
"protein_id": "ENSP00000501984.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 610,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676019.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1792_1793delCA",
"hgvs_p": "p.Gln598fs",
"transcript": "ENST00000910891.1",
"protein_id": "ENSP00000580950.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 609,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910891.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1789_1790delCA",
"hgvs_p": "p.Gln597fs",
"transcript": "ENST00000910889.1",
"protein_id": "ENSP00000580948.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 608,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910889.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1777_1778delCA",
"hgvs_p": "p.Gln593fs",
"transcript": "ENST00000930358.1",
"protein_id": "ENSP00000600417.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 604,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930358.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1774_1775delCA",
"hgvs_p": "p.Gln592fs",
"transcript": "ENST00000960337.1",
"protein_id": "ENSP00000630396.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 603,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960337.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1675_1676delCA",
"hgvs_p": "p.Gln559fs",
"transcript": "ENST00000960336.1",
"protein_id": "ENSP00000630395.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 570,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.*41_*42delCA",
"hgvs_p": null,
"transcript": "XM_017014926.2",
"protein_id": "XP_016870415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014926.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.*41_*42delCA",
"hgvs_p": null,
"transcript": "XM_047423603.1",
"protein_id": "XP_047279559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423603.1"
}
],
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"dbsnp": "rs863225199",
"frequency_reference_population": 0.0000034205575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342056,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 0.029999999329447746,
"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": 3.764,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_019892.6",
"gene_symbol": "INPP5E",
"hgnc_id": 21474,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1897_1898delCA",
"hgvs_p": "p.Gln633fs"
}
],
"clinvar_disease": "Joubert syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Joubert syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}