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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: X-45069750-CT-CTCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45069750&ref=CT&alt=CTCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "KDM6A",
"hgnc_id": 12637,
"hgvs_c": "c.2254_2255dupTC",
"hgvs_p": "p.Ser753fs",
"inheritance_mode": "XL,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001419809.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"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": "S?",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "S",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2256,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001291415.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2254_2255dupTC",
"hgvs_p": "p.Ser753fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611820.5",
"protein_coding": true,
"protein_id": "NP_001278344.1",
"strand": true,
"transcript": "NM_001291415.2",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "S",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2256,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000611820.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2254_2255dupTC",
"hgvs_p": "p.Ser753fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001291415.2",
"protein_coding": true,
"protein_id": "ENSP00000483595.2",
"strand": true,
"transcript": "ENST00000611820.5",
"transcript_support_level": 1
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5778,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2121,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000382899.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2119_2120dupTC",
"hgvs_p": "p.Ser708fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372355.6",
"strand": true,
"transcript": "ENST00000382899.9",
"transcript_support_level": 1
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "S",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2100,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000377967.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2098_2099dupTC",
"hgvs_p": "p.Ser701fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367203.4",
"strand": true,
"transcript": "ENST00000377967.9",
"transcript_support_level": 1
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "S",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 4071,
"cds_start": 1965,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000536777.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1963_1964dupTC",
"hgvs_p": "p.Ser656fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437405.3",
"strand": true,
"transcript": "ENST00000536777.6",
"transcript_support_level": 1
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "S",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 3969,
"cds_start": 1863,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543216.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1861_1862dupTC",
"hgvs_p": "p.Ser622fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443078.3",
"strand": true,
"transcript": "ENST00000543216.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000621147.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1092_*1093dupTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478793.1",
"strand": true,
"transcript": "ENST00000621147.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000621147.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "n.*1092_*1093dupTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478793.1",
"strand": true,
"transcript": "ENST00000621147.5",
"transcript_support_level": 1
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "S",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 4470,
"cds_start": 2256,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001419809.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2254_2255dupTC",
"hgvs_p": "p.Ser753fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406738.1",
"strand": true,
"transcript": "NM_001419809.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6100,
"cdna_start": 2518,
"cds_end": null,
"cds_length": 4368,
"cds_start": 2154,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419810.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2152_2153dupTC",
"hgvs_p": "p.Ser719fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406739.1",
"strand": true,
"transcript": "NM_001419810.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 4335,
"cds_start": 2121,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419811.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2119_2120dupTC",
"hgvs_p": "p.Ser708fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406740.1",
"strand": true,
"transcript": "NM_001419811.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "S",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2100,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419812.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2098_2099dupTC",
"hgvs_p": "p.Ser701fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406741.1",
"strand": true,
"transcript": "NM_001419812.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "S",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2178,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674586.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2176_2177dupTC",
"hgvs_p": "p.Ser727fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502660.1",
"strand": true,
"transcript": "ENST00000674586.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 2518,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2154,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001419813.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2152_2153dupTC",
"hgvs_p": "p.Ser719fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406742.1",
"strand": true,
"transcript": "NM_001419813.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2154,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000867282.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2152_2153dupTC",
"hgvs_p": "p.Ser719fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537341.1",
"strand": true,
"transcript": "ENST00000867282.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2121,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001291416.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2119_2120dupTC",
"hgvs_p": "p.Ser708fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278345.1",
"strand": true,
"transcript": "NM_001291416.2",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 4212,
"cds_start": 1998,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001419814.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.1996_1997dupTC",
"hgvs_p": "p.Ser667fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406743.1",
"strand": true,
"transcript": "NM_001419814.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "S",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2100,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_021140.4",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2098_2099dupTC",
"hgvs_p": "p.Ser701fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066963.2",
"strand": true,
"transcript": "NM_021140.4",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "S",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 2458,
"cds_end": null,
"cds_length": 4200,
"cds_start": 2094,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000867283.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2092_2093dupTC",
"hgvs_p": "p.Ser699fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537342.1",
"strand": true,
"transcript": "ENST00000867283.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "S",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2019,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000683021.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.2017_2018dupTC",
"hgvs_p": "p.Ser674fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507416.1",
"strand": true,
"transcript": "ENST00000683021.1",
"transcript_support_level": null
},
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 4104,
"cds_start": 1998,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001410742.1",
"gene_hgnc_id": 12637,
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