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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: 4-1212318-GG-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1212318&ref=GG&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CTBP1",
"hgnc_id": 2494,
"hgvs_c": "c.1247_1248delCCinsGG",
"hgvs_p": "p.Ala416Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001377186.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CTBP1-AS",
"hgnc_id": 48337,
"hgvs_c": "n.791_792delGGinsCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000625256.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001012614.2",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1211_1212delCCinsGG",
"hgvs_p": "p.Ala404Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382952.8",
"protein_coding": true,
"protein_id": "NP_001012632.1",
"strand": false,
"transcript": "NM_001012614.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382952.8",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1211_1212delCCinsGG",
"hgvs_p": "p.Ala404Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012614.2",
"protein_coding": true,
"protein_id": "ENSP00000372411.3",
"strand": false,
"transcript": "ENST00000382952.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000290921.10",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1244_1245delCCinsGG",
"hgvs_p": "p.Ala415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290921.6",
"strand": false,
"transcript": "ENST00000290921.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000625256.1",
"gene_hgnc_id": 48337,
"gene_symbol": "CTBP1-AS",
"hgvs_c": "n.791_792delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000625256.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 454,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941588.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1286_1287delCCinsGG",
"hgvs_p": "p.Ala429Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611647.1",
"strand": false,
"transcript": "ENST00000941588.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 441,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377186.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1247_1248delCCinsGG",
"hgvs_p": "p.Ala416Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364115.1",
"strand": false,
"transcript": "NM_001377186.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001328.3",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1244_1245delCCinsGG",
"hgvs_p": "p.Ala415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001319.1",
"strand": false,
"transcript": "NM_001328.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377187.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364116.1",
"strand": false,
"transcript": "NM_001377187.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377188.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364117.1",
"strand": false,
"transcript": "NM_001377188.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377189.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364118.1",
"strand": false,
"transcript": "NM_001377189.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377190.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364119.1",
"strand": false,
"transcript": "NM_001377190.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503594.6",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422148.2",
"strand": false,
"transcript": "ENST00000503594.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703164.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515212.1",
"strand": false,
"transcript": "ENST00000703164.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703165.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515213.1",
"strand": false,
"transcript": "ENST00000703165.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909001.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579060.1",
"strand": false,
"transcript": "ENST00000909001.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909002.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579061.1",
"strand": false,
"transcript": "ENST00000909002.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1557,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909003.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579062.1",
"strand": false,
"transcript": "ENST00000909003.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909004.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579063.1",
"strand": false,
"transcript": "ENST00000909004.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909005.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579064.1",
"strand": false,
"transcript": "ENST00000909005.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909007.1",
"gene_hgnc_id": 2494,
"gene_symbol": "CTBP1",
"hgvs_c": "c.1214_1215delCCinsGG",
"hgvs_p": "p.Ala405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579066.1",
"strand": false,
"transcript": "ENST00000909007.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1485,
"cds_end": null,
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}