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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: 8-42318647-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42318647&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42318647,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000520810.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "NM_001556.3",
"protein_id": "NP_001547.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 756,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": "ENST00000520810.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "ENST00000520810.6",
"protein_id": "ENSP00000430684.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 756,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": "NM_001556.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*155C>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*155C>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "NM_001242778.2",
"protein_id": "NP_001229707.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 697,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1144C>A",
"hgvs_p": "p.Arg382Arg",
"transcript": "NM_001190720.3",
"protein_id": "NP_001177649.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 692,
"cds_start": 1144,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1144C>A",
"hgvs_p": "p.Arg382Arg",
"transcript": "ENST00000520835.7",
"protein_id": "ENSP00000430868.2",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 692,
"cds_start": 1144,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_011544517.3",
"protein_id": "XP_011542819.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 805,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_047421757.1",
"protein_id": "XP_047277713.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 756,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1186C>A",
"hgvs_p": "p.Arg396Arg",
"transcript": "XM_047421758.1",
"protein_id": "XP_047277714.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 755,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1159C>A",
"hgvs_p": "p.Arg387Arg",
"transcript": "XM_047421759.1",
"protein_id": "XP_047277715.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 746,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1081C>A",
"hgvs_p": "p.Arg361Arg",
"transcript": "XM_011544520.3",
"protein_id": "XP_011542822.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 720,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_047421760.1",
"protein_id": "XP_047277716.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 706,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_047421761.1",
"protein_id": "XP_047277717.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 674,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Arg361Arg",
"transcript": "XM_047421762.1",
"protein_id": "XP_047277718.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 671,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Arg",
"transcript": "XM_047421763.1",
"protein_id": "XP_047277719.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 595,
"cds_start": 706,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "c.1336C>A",
"hgvs_p": "p.Arg446Arg",
"transcript": "XM_047421764.1",
"protein_id": "XP_047277720.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 562,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.*897C>A",
"hgvs_p": null,
"transcript": "ENST00000342222.6",
"protein_id": "ENSP00000339151.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*617C>A",
"hgvs_p": null,
"transcript": "ENST00000416505.7",
"protein_id": "ENSP00000404920.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.211C>A",
"hgvs_p": null,
"transcript": "ENST00000517502.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*1094C>A",
"hgvs_p": null,
"transcript": "ENST00000517890.5",
"protein_id": "ENSP00000428799.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.1222C>A",
"hgvs_p": null,
"transcript": "ENST00000517917.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKB",
"gene_hgnc_id": 5960,
"hgvs_c": "n.*617C>A",
"hgvs_p": null,
"transcript": "ENST00000518679.5",
"protein_id": "ENSP00000430557.1",
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}
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}