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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: 8-42320825-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42320825&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42320825,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001556.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "NM_001556.3",
"protein_id": "NP_001547.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 756,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000520810.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001556.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "ENST00000520810.6",
"protein_id": "ENSP00000430684.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 756,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*488G>T",
"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": null,
"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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*488G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523517.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "ENST00000957021.1",
"protein_id": "ENSP00000627080.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 772,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957021.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Gly570Trp",
"transcript": "ENST00000870192.1",
"protein_id": "ENSP00000540251.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 769,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870192.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "ENST00000870190.1",
"protein_id": "ENSP00000540249.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 760,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870190.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "ENST00000870193.1",
"protein_id": "ENSP00000540252.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 756,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870193.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "ENST00000870194.1",
"protein_id": "ENSP00000540253.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 756,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870194.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1663G>T",
"hgvs_p": "p.Gly555Trp",
"transcript": "ENST00000957019.1",
"protein_id": "ENSP00000627078.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 754,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957019.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1663G>T",
"hgvs_p": "p.Gly555Trp",
"transcript": "ENST00000957020.1",
"protein_id": "ENSP00000627079.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 754,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957020.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1579G>T",
"hgvs_p": "p.Gly527Trp",
"transcript": "ENST00000935692.1",
"protein_id": "ENSP00000605751.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 726,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935692.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Gly507Trp",
"transcript": "ENST00000870191.1",
"protein_id": "ENSP00000540250.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 706,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870191.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1492G>T",
"hgvs_p": "p.Gly498Trp",
"transcript": "NM_001242778.2",
"protein_id": "NP_001229707.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 697,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242778.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Gly493Trp",
"transcript": "NM_001190720.3",
"protein_id": "NP_001177649.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 692,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190720.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Gly493Trp",
"transcript": "ENST00000520835.7",
"protein_id": "ENSP00000430868.2",
"transcript_support_level": 2,
"aa_start": 493,
"aa_end": null,
"aa_length": 692,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520835.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "XM_011544517.3",
"protein_id": "XP_011542819.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 805,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544517.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "XM_047421757.1",
"protein_id": "XP_047277713.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 756,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421757.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Gly507Trp",
"transcript": "XM_047421758.1",
"protein_id": "XP_047277714.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 755,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421758.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1492G>T",
"hgvs_p": "p.Gly498Trp",
"transcript": "XM_047421759.1",
"protein_id": "XP_047277715.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 746,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421759.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Gly472Trp",
"transcript": "XM_011544520.3",
"protein_id": "XP_011542822.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 720,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544520.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1669G>T",
"hgvs_p": "p.Gly557Trp",
"transcript": "XM_047421760.1",
"protein_id": "XP_047277716.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 706,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2121,
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{
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],
"gene_symbol": "IKBKB",
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"dbsnp": "rs149701177",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3670976161956787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.375,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.304,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001556.3",
"gene_symbol": "IKBKB",
"hgnc_id": 5960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1669G>T",
"hgvs_p": "p.Gly557Trp"
}
],
"clinvar_disease": "Severe combined immunodeficiency due to IKK2 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Severe combined immunodeficiency due to IKK2 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}