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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: 13-52089277-TT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52089277&ref=TT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NEK5",
"hgnc_id": 7748,
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001365552.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"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": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365552.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684899.1",
"protein_coding": true,
"protein_id": "NP_001352481.1",
"strand": false,
"transcript": "NM_001365552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684899.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365552.1",
"protein_coding": true,
"protein_id": "ENSP00000509632.1",
"strand": false,
"transcript": "ENST00000684899.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 708,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355568.8",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347767.4",
"strand": false,
"transcript": "ENST00000355568.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 857,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6051,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 2574,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647945.2",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497892.1",
"strand": false,
"transcript": "ENST00000647945.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966558.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636617.1",
"strand": false,
"transcript": "ENST00000966558.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 708,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_199289.3",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_954983.1",
"strand": false,
"transcript": "NM_199289.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 708,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617045.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477810.1",
"strand": false,
"transcript": "ENST00000617045.1",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 683,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652119.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498918.1",
"strand": false,
"transcript": "ENST00000652119.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 904,
"aa_ref": "Q",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6177,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2715,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430287.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286243.1",
"strand": false,
"transcript": "XM_047430287.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 903,
"aa_ref": "Q",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6174,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2712,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430288.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286244.1",
"strand": false,
"transcript": "XM_047430288.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 889,
"aa_ref": "Q",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2670,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430289.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1415_1416delAAinsGC",
"hgvs_p": "p.Gln472Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286245.1",
"strand": false,
"transcript": "XM_047430289.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 881,
"aa_ref": "Q",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6108,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430290.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286246.1",
"strand": false,
"transcript": "XM_047430290.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6084,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430291.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286247.1",
"strand": false,
"transcript": "XM_047430291.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430292.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286248.1",
"strand": false,
"transcript": "XM_047430292.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 790,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430293.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1244_1245delAAinsGC",
"hgvs_p": "p.Gln415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286249.1",
"strand": false,
"transcript": "XM_047430293.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 753,
"aa_ref": "Q",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5710,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1007,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430294.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1007_1008delAAinsGC",
"hgvs_p": "p.Gln336Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286250.1",
"strand": false,
"transcript": "XM_047430294.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 737,
"aa_ref": "Q",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020556.2",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876045.1",
"strand": false,
"transcript": "XM_017020556.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011535066.3",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533368.1",
"strand": false,
"transcript": "XM_011535066.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 692,
"aa_ref": "Q",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5611,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 2079,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430295.1",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.824_825delAAinsGC",
"hgvs_p": "p.Gln275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286251.1",
"strand": false,
"transcript": "XM_047430295.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 598,
"aa_ref": "Q",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006719808.5",
"gene_hgnc_id": 7748,
"gene_symbol": "NEK5",
"hgvs_c": "c.1460_1461delAAinsGC",
"hgvs_p": "p.Gln487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719871.2",
"strand": false,
"transcript": "XM_006719808.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 681,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": null,
"cds_end": null,
"cds_length": 2046,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
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