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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-154776194-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154776194&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DKC1",
"hgnc_id": 2890,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"inheritance_mode": "XL,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001363.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.163,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inherited Immunodeficiency Diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.517866313457489,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001363.5",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369550.10",
"protein_coding": true,
"protein_id": "NP_001354.1",
"strand": true,
"transcript": "NM_001363.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000369550.10",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363.5",
"protein_coding": true,
"protein_id": "ENSP00000358563.5",
"strand": true,
"transcript": "ENST00000369550.10",
"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": 3079,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000620277.4",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.2059G>A",
"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": "ENST00000620277.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953351.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Arg461Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623410.1",
"strand": true,
"transcript": "ENST00000953351.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001142463.3",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Arg444Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135935.1",
"strand": true,
"transcript": "NM_001142463.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696575.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Arg444Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512730.1",
"strand": true,
"transcript": "ENST00000696575.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696628.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512765.1",
"strand": true,
"transcript": "ENST00000696628.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696577.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512731.1",
"strand": true,
"transcript": "ENST00000696577.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696583.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512736.1",
"strand": true,
"transcript": "ENST00000696583.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696580.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512733.1",
"strand": true,
"transcript": "ENST00000696580.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696587.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512737.1",
"strand": true,
"transcript": "ENST00000696587.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 936,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000696588.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513251.1",
"strand": true,
"transcript": "ENST00000696588.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 824,
"cds_end": null,
"cds_length": 921,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939407.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609466.1",
"strand": true,
"transcript": "ENST00000939407.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1340,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939406.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609465.1",
"strand": true,
"transcript": "ENST00000939406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 420,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": null,
"cds_end": null,
"cds_length": 1263,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001288747.2",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.*572G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275676.1",
"strand": true,
"transcript": "NM_001288747.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": null,
"cds_end": null,
"cds_length": 1407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939408.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "c.1339-605G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609467.1",
"strand": true,
"transcript": "ENST00000939408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000412124.5",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.604G>A",
"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": "ENST00000412124.5",
"transcript_support_level": 5
},
{
"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": 2516,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000413910.6",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.*142G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400542.2",
"strand": true,
"transcript": "ENST00000413910.6",
"transcript_support_level": 5
},
{
"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": 2571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000426673.6",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.*788G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407253.3",
"strand": true,
"transcript": "ENST00000426673.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000475966.1",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.835G>A",
"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": "ENST00000475966.1",
"transcript_support_level": 5
},
{
"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": 2617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000484317.6",
"gene_hgnc_id": 2890,
"gene_symbol": "DKC1",
"hgvs_c": "n.1620G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"transcript": "NM_001363.5"
}
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}