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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: 8-42316223-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42316223&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "IKBKB",
"hgnc_id": 5960,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"inheritance_mode": "AD,AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001556.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "8",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Immunodeficiency 15a,Severe combined immunodeficiency due to IKK2 deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 2271,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001556.3",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000520810.6",
"protein_coding": true,
"protein_id": "NP_001547.1",
"strand": true,
"transcript": "NM_001556.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 2271,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000520810.6",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001556.3",
"protein_coding": true,
"protein_id": "ENSP00000430684.1",
"strand": true,
"transcript": "ENST00000520810.6",
"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": 2378,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000523517.5",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "n.814C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430114.1",
"strand": true,
"transcript": "ENST00000523517.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 772,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3400,
"cdna_start": 967,
"cds_end": null,
"cds_length": 2319,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957021.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627080.1",
"strand": true,
"transcript": "ENST00000957021.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 769,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 998,
"cds_end": null,
"cds_length": 2310,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870192.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540251.1",
"strand": true,
"transcript": "ENST00000870192.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 760,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 2283,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870190.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540249.1",
"strand": true,
"transcript": "ENST00000870190.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 2271,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870193.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540252.1",
"strand": true,
"transcript": "ENST00000870193.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 953,
"cds_end": null,
"cds_length": 2271,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870194.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540253.1",
"strand": true,
"transcript": "ENST00000870194.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 939,
"cds_end": null,
"cds_length": 2265,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957019.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627078.1",
"strand": true,
"transcript": "ENST00000957019.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 996,
"cds_end": null,
"cds_length": 2265,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957020.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627079.1",
"strand": true,
"transcript": "ENST00000957020.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 726,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": 910,
"cds_end": null,
"cds_length": 2181,
"cds_start": 724,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935692.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605751.1",
"strand": true,
"transcript": "ENST00000935692.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 706,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 832,
"cds_end": null,
"cds_length": 2121,
"cds_start": 664,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000870191.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540250.1",
"strand": true,
"transcript": "ENST00000870191.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2094,
"cds_start": 637,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001242778.2",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229707.1",
"strand": true,
"transcript": "NM_001242778.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 877,
"cds_end": null,
"cds_length": 2079,
"cds_start": 622,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001190720.3",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177649.2",
"strand": true,
"transcript": "NM_001190720.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 861,
"cds_end": null,
"cds_length": 2079,
"cds_start": 622,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000520835.7",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430868.2",
"strand": true,
"transcript": "ENST00000520835.7",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 805,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2418,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011544517.3",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542819.1",
"strand": true,
"transcript": "XM_011544517.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3788,
"cdna_start": 850,
"cds_end": null,
"cds_length": 2271,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421757.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277713.1",
"strand": true,
"transcript": "XM_047421757.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 755,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2268,
"cds_start": 664,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047421758.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277714.1",
"strand": true,
"transcript": "XM_047421758.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 746,
"aa_ref": "R",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2241,
"cds_start": 637,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421759.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277715.1",
"strand": true,
"transcript": "XM_047421759.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 720,
"aa_ref": "R",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 716,
"cds_end": null,
"cds_length": 2163,
"cds_start": 559,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011544520.3",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542822.1",
"strand": true,
"transcript": "XM_011544520.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 706,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 850,
"cds_end": null,
"cds_length": 2121,
"cds_start": 814,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421760.1",
"gene_hgnc_id": 5960,
"gene_symbol": "IKBKB",
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
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