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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: 9-136429703-TTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136429703&ref=TTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136429703,
"ref": "TTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_019892.6",
"consequences": [
{
"aa_ref": "QN",
"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.1905_1906delGA",
"hgvs_p": "p.Asn636fs",
"transcript": "NM_019892.6",
"protein_id": "NP_063945.2",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 644,
"cds_start": 1905,
"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": "QN",
"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.1905_1906delGA",
"hgvs_p": "p.Asn636fs",
"transcript": "ENST00000371712.4",
"protein_id": "ENSP00000360777.3",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 644,
"cds_start": 1905,
"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": "QN",
"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.1926_1927delGA",
"hgvs_p": "p.Asn643fs",
"transcript": "ENST00000930360.1",
"protein_id": "ENSP00000600419.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 651,
"cds_start": 1926,
"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": "QN",
"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.1902_1903delGA",
"hgvs_p": "p.Asn635fs",
"transcript": "NM_001318502.2",
"protein_id": "NP_001305431.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 643,
"cds_start": 1902,
"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": "QN",
"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.1902_1903delGA",
"hgvs_p": "p.Asn635fs",
"transcript": "ENST00000910890.1",
"protein_id": "ENSP00000580949.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 643,
"cds_start": 1902,
"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": "QN",
"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.1902_1903delGA",
"hgvs_p": "p.Asn635fs",
"transcript": "ENST00000960334.1",
"protein_id": "ENSP00000630393.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 643,
"cds_start": 1902,
"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": "QN",
"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.1869_1870delGA",
"hgvs_p": "p.Asn624fs",
"transcript": "ENST00000930356.1",
"protein_id": "ENSP00000600415.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 632,
"cds_start": 1869,
"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": "QN",
"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.1866_1867delGA",
"hgvs_p": "p.Asn623fs",
"transcript": "ENST00000930357.1",
"protein_id": "ENSP00000600416.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 631,
"cds_start": 1866,
"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": "QN",
"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.1863_1864delGA",
"hgvs_p": "p.Asn622fs",
"transcript": "ENST00000960335.1",
"protein_id": "ENSP00000630394.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 630,
"cds_start": 1863,
"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": "QN",
"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.1860_1861delGA",
"hgvs_p": "p.Asn621fs",
"transcript": "ENST00000930359.1",
"protein_id": "ENSP00000600418.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 629,
"cds_start": 1860,
"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": "QN",
"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.1803_1804delGA",
"hgvs_p": "p.Asn602fs",
"transcript": "ENST00000676019.1",
"protein_id": "ENSP00000501984.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 610,
"cds_start": 1803,
"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": "QN",
"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.1800_1801delGA",
"hgvs_p": "p.Asn601fs",
"transcript": "ENST00000910891.1",
"protein_id": "ENSP00000580950.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 609,
"cds_start": 1800,
"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": "QN",
"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.1797_1798delGA",
"hgvs_p": "p.Asn600fs",
"transcript": "ENST00000910889.1",
"protein_id": "ENSP00000580948.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 608,
"cds_start": 1797,
"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": "QN",
"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.1785_1786delGA",
"hgvs_p": "p.Asn596fs",
"transcript": "ENST00000930358.1",
"protein_id": "ENSP00000600417.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 604,
"cds_start": 1785,
"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": "QN",
"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.1782_1783delGA",
"hgvs_p": "p.Asn595fs",
"transcript": "ENST00000960337.1",
"protein_id": "ENSP00000630396.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 603,
"cds_start": 1782,
"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": "QN",
"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.1683_1684delGA",
"hgvs_p": "p.Asn562fs",
"transcript": "ENST00000960336.1",
"protein_id": "ENSP00000630395.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 570,
"cds_start": 1683,
"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.*49_*50delGA",
"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.*49_*50delGA",
"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": "rs2131604074",
"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": 0.019999999552965164,
"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": 3.686,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "NM_019892.6",
"gene_symbol": "INPP5E",
"hgnc_id": 21474,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1905_1906delGA",
"hgvs_p": "p.Asn636fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}