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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: 8-42321909-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42321909&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42321909,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001556.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "NM_001556.3",
"protein_id": "NP_001547.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 756,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": "ENST00000520810.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001556.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000520810.6",
"protein_id": "ENSP00000430684.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 756,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": "NM_001556.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520810.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*521A>C",
"hgvs_p": null,
"transcript": "ENST00000523517.5",
"protein_id": "ENSP00000430114.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*521A>C",
"hgvs_p": null,
"transcript": "ENST00000523517.5",
"protein_id": "ENSP00000430114.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523517.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1640A>C",
"hgvs_p": "p.Lys547Thr",
"transcript": "XM_047421764.1",
"protein_id": "XP_047277720.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 562,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421764.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000957021.1",
"protein_id": "ENSP00000627080.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 772,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957021.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1741A>C",
"hgvs_p": "p.Arg581Arg",
"transcript": "ENST00000870192.1",
"protein_id": "ENSP00000540251.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 769,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870192.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000870190.1",
"protein_id": "ENSP00000540249.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 760,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870190.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000870193.1",
"protein_id": "ENSP00000540252.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 756,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870193.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "ENST00000870194.1",
"protein_id": "ENSP00000540253.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 756,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870194.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1696A>C",
"hgvs_p": "p.Arg566Arg",
"transcript": "ENST00000957019.1",
"protein_id": "ENSP00000627078.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 754,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957019.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1696A>C",
"hgvs_p": "p.Arg566Arg",
"transcript": "ENST00000957020.1",
"protein_id": "ENSP00000627079.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 754,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957020.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1612A>C",
"hgvs_p": "p.Arg538Arg",
"transcript": "ENST00000935692.1",
"protein_id": "ENSP00000605751.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 726,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935692.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1552A>C",
"hgvs_p": "p.Arg518Arg",
"transcript": "ENST00000870191.1",
"protein_id": "ENSP00000540250.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 706,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870191.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Arg509Arg",
"transcript": "NM_001242778.2",
"protein_id": "NP_001229707.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 697,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242778.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1510A>C",
"hgvs_p": "p.Arg504Arg",
"transcript": "NM_001190720.3",
"protein_id": "NP_001177649.2",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 692,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190720.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1510A>C",
"hgvs_p": "p.Arg504Arg",
"transcript": "ENST00000520835.7",
"protein_id": "ENSP00000430868.2",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 692,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520835.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "XM_011544517.3",
"protein_id": "XP_011542819.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 805,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544517.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg",
"transcript": "XM_047421757.1",
"protein_id": "XP_047277713.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 756,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421757.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1552A>C",
"hgvs_p": "p.Arg518Arg",
"transcript": "XM_047421758.1",
"protein_id": "XP_047277714.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 755,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421758.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Arg509Arg",
"transcript": "XM_047421759.1",
"protein_id": "XP_047277715.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 746,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421759.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1447A>C",
"hgvs_p": "p.Arg483Arg",
"transcript": "XM_011544520.3",
"protein_id": "XP_011542822.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 720,
"cds_start": 1447,
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],
"gene_symbol": "IKBKB",
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"dbsnp": "rs151057347",
"frequency_reference_population": 0.0023856105,
"hom_count_reference_population": 11,
"allele_count_reference_population": 3841,
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"gnomad_exomes_ac": 3559,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0081099271774292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.664,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001556.3",
"gene_symbol": "IKBKB",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1702A>C",
"hgvs_p": "p.Arg568Arg"
}
],
"clinvar_disease": "Severe combined immunodeficiency due to IKK2 deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Severe combined immunodeficiency due to IKK2 deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}