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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-41542716-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41542716&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CASK",
"hgnc_id": 1497,
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Asp710Gly",
"inheritance_mode": "AD,XL",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001367721.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"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": "G",
"aa_end": null,
"aa_length": 926,
"aa_ref": "D",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367721.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Asp710Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378163.7",
"protein_coding": true,
"protein_id": "NP_001354650.1",
"strand": false,
"transcript": "NM_001367721.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 926,
"aa_ref": "D",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8833,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378163.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Asp710Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367721.1",
"protein_coding": true,
"protein_id": "ENSP00000367405.1",
"strand": false,
"transcript": "ENST00000378163.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 903,
"aa_ref": "D",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8220,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421587.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2060_2061delATinsGC",
"hgvs_p": "p.Asp687Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400526.4",
"strand": false,
"transcript": "ENST00000421587.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 892,
"aa_ref": "D",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378166.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2042_2043delATinsGC",
"hgvs_p": "p.Asp681Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367408.5",
"strand": false,
"transcript": "ENST00000378166.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 880,
"aa_ref": "D",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442742.7",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2006_2007delATinsGC",
"hgvs_p": "p.Asp669Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398007.3",
"strand": false,
"transcript": "ENST00000442742.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000378179.9",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "n.1395_1396delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000378179.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 960,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915521.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2111_2112delATinsGC",
"hgvs_p": "p.Asp704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585579.1",
"strand": false,
"transcript": "ENST00000915521.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 955,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645986.2",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2111_2112delATinsGC",
"hgvs_p": "p.Asp704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494409.2",
"strand": false,
"transcript": "ENST00000645986.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 948,
"aa_ref": "D",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4730,
"cdna_start": 2748,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915520.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2075_2076delATinsGC",
"hgvs_p": "p.Asp692Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585578.1",
"strand": false,
"transcript": "ENST00000915520.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 943,
"aa_ref": "D",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956255.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2060_2061delATinsGC",
"hgvs_p": "p.Asp687Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626314.1",
"strand": false,
"transcript": "ENST00000956255.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 937,
"aa_ref": "D",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956252.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2042_2043delATinsGC",
"hgvs_p": "p.Asp681Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626311.1",
"strand": false,
"transcript": "ENST00000956252.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 927,
"aa_ref": "D",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8799,
"cdna_start": 2677,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2147,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378168.8",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2147_2148delATinsGC",
"hgvs_p": "p.Asp716Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367410.4",
"strand": false,
"transcript": "ENST00000378168.8",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 925,
"aa_ref": "D",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956254.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2006_2007delATinsGC",
"hgvs_p": "p.Asp669Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626313.1",
"strand": false,
"transcript": "ENST00000956254.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 921,
"aa_ref": "D",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8818,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003688.4",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Asp710Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003679.2",
"strand": false,
"transcript": "NM_003688.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 921,
"aa_ref": "D",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645566.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2129_2130delATinsGC",
"hgvs_p": "p.Asp710Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494788.1",
"strand": false,
"transcript": "ENST00000645566.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 920,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8815,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410745.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2111_2112delATinsGC",
"hgvs_p": "p.Asp704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397674.1",
"strand": false,
"transcript": "NM_001410745.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 920,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644219.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2111_2112delATinsGC",
"hgvs_p": "p.Asp704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495357.1",
"strand": false,
"transcript": "ENST00000644219.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915519.1",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2093_2094delATinsGC",
"hgvs_p": "p.Asp698Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585577.1",
"strand": false,
"transcript": "ENST00000915519.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 909,
"aa_ref": "D",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378154.3",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2093_2094delATinsGC",
"hgvs_p": "p.Asp698Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367396.2",
"strand": false,
"transcript": "ENST00000378154.3",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 908,
"aa_ref": "D",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2075,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378158.6",
"gene_hgnc_id": 1497,
"gene_symbol": "CASK",
"hgvs_c": "c.2075_2076delATinsGC",
"hgvs_p": "p.Asp692Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367400.2",
"strand": false,
"transcript": "ENST00000378158.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 904,
"aa_ref": "D",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8730,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2078,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675354.1",
"gene_hgnc_id": 1497,
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