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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: 8-42318599-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42318599&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42318599,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant",
"transcript": "NM_001556.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "NM_001556.3",
"protein_id": "NP_001547.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 756,
"cds_start": 1293,
"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": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000520810.6",
"protein_id": "ENSP00000430684.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 756,
"cds_start": 1293,
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*111dupG",
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*111dupG",
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000957021.1",
"protein_id": "ENSP00000627080.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 772,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000870192.1",
"protein_id": "ENSP00000540251.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 769,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000870190.1",
"protein_id": "ENSP00000540249.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 760,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000870193.1",
"protein_id": "ENSP00000540252.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 756,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000870194.1",
"protein_id": "ENSP00000540253.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 756,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "ENST00000957019.1",
"protein_id": "ENSP00000627078.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 754,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1286dupG",
"hgvs_p": "p.Gln430fs",
"transcript": "ENST00000957020.1",
"protein_id": "ENSP00000627079.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 754,
"cds_start": 1287,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1202dupG",
"hgvs_p": "p.Gln402fs",
"transcript": "ENST00000935692.1",
"protein_id": "ENSP00000605751.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 726,
"cds_start": 1203,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1142dupG",
"hgvs_p": "p.Gln382fs",
"transcript": "ENST00000870191.1",
"protein_id": "ENSP00000540250.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 706,
"cds_start": 1143,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1115dupG",
"hgvs_p": "p.Gln373fs",
"transcript": "NM_001242778.2",
"protein_id": "NP_001229707.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 697,
"cds_start": 1116,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1100dupG",
"hgvs_p": "p.Gln368fs",
"transcript": "NM_001190720.3",
"protein_id": "NP_001177649.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 692,
"cds_start": 1101,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1100dupG",
"hgvs_p": "p.Gln368fs",
"transcript": "ENST00000520835.7",
"protein_id": "ENSP00000430868.2",
"transcript_support_level": 2,
"aa_start": 367,
"aa_end": null,
"aa_length": 692,
"cds_start": 1101,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "XM_011544517.3",
"protein_id": "XP_011542819.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 805,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "XM_047421757.1",
"protein_id": "XP_047277713.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 756,
"cds_start": 1293,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1142dupG",
"hgvs_p": "p.Gln382fs",
"transcript": "XM_047421758.1",
"protein_id": "XP_047277714.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 755,
"cds_start": 1143,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1115dupG",
"hgvs_p": "p.Gln373fs",
"transcript": "XM_047421759.1",
"protein_id": "XP_047277715.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 746,
"cds_start": 1116,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1037dupG",
"hgvs_p": "p.Gln347fs",
"transcript": "XM_011544520.3",
"protein_id": "XP_011542822.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 720,
"cds_start": 1038,
"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": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1292dupG",
"hgvs_p": "p.Gln432fs",
"transcript": "XM_047421760.1",
"protein_id": "XP_047277716.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 706,
"cds_start": 1293,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"allele_count_reference_population": 0,
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"computational_score_selected": null,
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"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
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{
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"PM2",
"PP5"
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"verdict": "Pathogenic",
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"effects": [
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],
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],
"clinvar_disease": "IKBKB-related disorder,Severe combined immunodeficiency due to IKK2 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Severe combined immunodeficiency due to IKK2 deficiency|IKBKB-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}