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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-45090755-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45090755&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM6A",
"hgnc_id": 12637,
"hgvs_c": "c.3925G>A",
"hgvs_p": "p.Glu1309Lys",
"inheritance_mode": "XL,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001419809.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9681,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8486680388450623,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "E",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001291415.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3925G>A",
"hgvs_p": "p.Glu1309Lys",
"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": "K",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "E",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000611820.5",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3925G>A",
"hgvs_p": "p.Glu1309Lys",
"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": "K",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "E",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5778,
"cdna_start": 4154,
"cds_end": null,
"cds_length": 4227,
"cds_start": 3790,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000382899.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"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": "K",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "E",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 4133,
"cds_end": null,
"cds_length": 4206,
"cds_start": 3769,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000377967.9",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3769G>A",
"hgvs_p": "p.Glu1257Lys",
"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": "K",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "E",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 3998,
"cds_end": null,
"cds_length": 4071,
"cds_start": 3634,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000536777.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Glu1212Lys",
"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": "K",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "E",
"aa_start": 1178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 3969,
"cds_start": 3532,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000543216.6",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Glu1178Lys",
"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": "K",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "E",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 4470,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001419809.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3925G>A",
"hgvs_p": "p.Glu1309Lys",
"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": "K",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "E",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6100,
"cdna_start": 4187,
"cds_end": null,
"cds_length": 4368,
"cds_start": 3823,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001419810.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3823G>A",
"hgvs_p": "p.Glu1275Lys",
"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": "K",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "E",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 4154,
"cds_end": null,
"cds_length": 4335,
"cds_start": 3790,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001419811.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"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": "K",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "E",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 4133,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3769,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001419812.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3769G>A",
"hgvs_p": "p.Glu1257Lys",
"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": "K",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "E",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 4211,
"cds_end": null,
"cds_length": 4284,
"cds_start": 3847,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000674586.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3847G>A",
"hgvs_p": "p.Glu1283Lys",
"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": "K",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "E",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 4187,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3823,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001419813.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3823G>A",
"hgvs_p": "p.Glu1275Lys",
"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": "K",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "E",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 4245,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3823,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000867282.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3823G>A",
"hgvs_p": "p.Glu1275Lys",
"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": "K",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "E",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 4154,
"cds_end": null,
"cds_length": 4227,
"cds_start": 3790,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001291416.2",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Glu1264Lys",
"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": "K",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "E",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3667,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001419814.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3667G>A",
"hgvs_p": "p.Glu1223Lys",
"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": "K",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "E",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 4133,
"cds_end": null,
"cds_length": 4206,
"cds_start": 3769,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_021140.4",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3769G>A",
"hgvs_p": "p.Glu1257Lys",
"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": "K",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "E",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 4127,
"cds_end": null,
"cds_length": 4200,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000867283.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3763G>A",
"hgvs_p": "p.Glu1255Lys",
"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": "K",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "E",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3688,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000683021.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3688G>A",
"hgvs_p": "p.Glu1230Lys",
"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": "K",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "E",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 4104,
"cds_start": 3667,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001410742.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3667G>A",
"hgvs_p": "p.Glu1223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397671.1",
"strand": true,
"transcript": "NM_001410742.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1367,
"aa_ref": "E",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 4104,
"cds_start": 3667,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000675577.1",
"gene_hgnc_id": 12637,
"gene_symbol": "KDM6A",
"hgvs_c": "c.3667G>A",
"hgvs_p": "p.Glu1223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501855.1",
"strand": true,
"transcript": "ENST00000675577.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1358,
"aa_ref": "E",
"aa_start": 1178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 4077,
"cds_start": 3532,
"consequences": [
"missense_variant"
],
"exon_count": 28,
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