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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: 17-43057092-T-TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43057092&ref=T&alt=TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43057092,
"ref": "T",
"alt": "TGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA",
"effect": "frameshift_variant",
"transcript": "ENST00000357654.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5194-10_5236dupTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1746fs",
"transcript": "NM_007294.4",
"protein_id": "NP_009225.1",
"transcript_support_level": null,
"aa_start": 1746,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5236,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5349,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000357654.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5236_5237insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1746fs",
"transcript": "ENST00000357654.9",
"protein_id": "ENSP00000350283.3",
"transcript_support_level": 1,
"aa_start": 1746,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5236,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5349,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_007294.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5299_5300insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1767fs",
"transcript": "ENST00000471181.7",
"protein_id": "ENSP00000418960.2",
"transcript_support_level": 1,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5299,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5531,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5236_5237insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1746fs",
"transcript": "ENST00000470026.6",
"protein_id": "ENSP00000419274.2",
"transcript_support_level": 1,
"aa_start": 1746,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5236,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5236_5237insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1746fs",
"transcript": "ENST00000494123.6",
"protein_id": "ENSP00000419103.2",
"transcript_support_level": 1,
"aa_start": 1746,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5236,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5429,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5236_5237insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1746fs",
"transcript": "ENST00000618469.2",
"protein_id": "ENSP00000478114.2",
"transcript_support_level": 1,
"aa_start": 1746,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5236,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5883,
"cdna_end": null,
"cdna_length": 7613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5158_5159insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1720fs",
"transcript": "ENST00000477152.6",
"protein_id": "ENSP00000419988.2",
"transcript_support_level": 1,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5271,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4348_4349insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1450fs",
"transcript": "ENST00000497488.2",
"protein_id": "ENSP00000418986.2",
"transcript_support_level": 1,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1567,
"cds_start": 4348,
"cds_end": null,
"cds_length": 4704,
"cdna_start": 4596,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.1924_1925insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His642fs",
"transcript": "ENST00000478531.6",
"protein_id": "ENSP00000420412.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 759,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.1924_1925insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His642fs",
"transcript": "ENST00000468300.5",
"protein_id": "ENSP00000417148.1",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 699,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.709_710insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His237fs",
"transcript": "ENST00000591534.5",
"protein_id": "ENSP00000467329.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 354,
"cds_start": 709,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.166_167insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His56fs",
"transcript": "ENST00000586385.5",
"protein_id": "ENSP00000465818.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 173,
"cds_start": 166,
"cds_end": null,
"cds_length": 522,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 781,
"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": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*5019_*5020insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"transcript_support_level": 1,
"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": 5693,
"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": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*5019_*5020insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"transcript_support_level": 1,
"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": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.-98-6903_-98-6902insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": null,
"transcript": "ENST00000591849.5",
"protein_id": "ENSP00000465347.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5260-10_5302dupTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1768fs",
"transcript": "NM_001407581.1",
"protein_id": "NP_001394510.1",
"transcript_support_level": null,
"aa_start": 1768,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5302,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 7154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5260-10_5302dupTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1768fs",
"transcript": "NM_001407582.1",
"protein_id": "NP_001394511.1",
"transcript_support_level": null,
"aa_start": 1768,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5302,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5504,
"cdna_end": null,
"cdna_length": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5302_5303insTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1768fs",
"transcript": "ENST00000644379.2",
"protein_id": "ENSP00000496570.2",
"transcript_support_level": null,
"aa_start": 1768,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5302,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5257-10_5299dupTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1767fs",
"transcript": "NM_001407583.1",
"protein_id": "NP_001394512.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5299,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5946,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5257-10_5299dupTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACC",
"hgvs_p": "p.His1767fs",
"transcript": "NM_001407585.1",
"protein_id": "NP_001394514.1",
"transcript_support_level": null,
"aa_start": 1767,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5299,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5399,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "LSFSMILKSEEMWSMEET?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
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}
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"bayesdelnoaf_score": null,
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"phylop100way_score": 5.958,
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{
"score": 10,
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"PP5_Moderate"
],
"verdict": "Pathogenic",
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],
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}
],
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"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}