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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: 11-72093529-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72093529&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72093529,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145309.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_145309.6",
"protein_id": "NP_660352.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "ENST00000289488.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000289488.8",
"protein_id": "ENSP00000289488.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "NM_145309.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000541614.5",
"protein_id": "ENSP00000438522.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 158,
"cds_start": 116,
"cds_end": null,
"cds_length": 477,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000324866.11",
"protein_id": "ENSP00000440693.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 146,
"cds_start": 116,
"cds_end": null,
"cds_length": 441,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2402,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "n.116G>A",
"hgvs_p": null,
"transcript": "ENST00000427369.6",
"protein_id": "ENSP00000409403.2",
"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": 3299,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "n.*179G>A",
"hgvs_p": null,
"transcript": "ENST00000535883.6",
"protein_id": "ENSP00000437561.1",
"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": 1154,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "n.116G>A",
"hgvs_p": null,
"transcript": "ENST00000544409.5",
"protein_id": "ENSP00000440969.1",
"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": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-288G>A",
"hgvs_p": null,
"transcript": "ENST00000307198.11",
"protein_id": "ENSP00000305742.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3604,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "n.*179G>A",
"hgvs_p": null,
"transcript": "ENST00000535883.6",
"protein_id": "ENSP00000437561.1",
"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": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001318803.2",
"protein_id": "NP_001305732.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000538413.6",
"protein_id": "ENSP00000438762.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000538478.5",
"protein_id": "ENSP00000444583.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000642648.1",
"protein_id": "ENSP00000494362.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000647530.1",
"protein_id": "ENSP00000494072.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 192,
"cds_start": 116,
"cds_end": null,
"cds_length": 579,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "NM_001205138.4",
"protein_id": "NP_001192067.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 174,
"cds_start": 62,
"cds_end": null,
"cds_length": 525,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "ENST00000423494.6",
"protein_id": "ENSP00000441249.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 174,
"cds_start": 62,
"cds_end": null,
"cds_length": 525,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001145307.5",
"protein_id": "NP_001138779.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 158,
"cds_start": 116,
"cds_end": null,
"cds_length": 477,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000439209.5",
"protein_id": "ENSP00000395139.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 156,
"cds_start": 116,
"cds_end": null,
"cds_length": 471,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000643715.1",
"protein_id": "ENSP00000496019.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 156,
"cds_start": 116,
"cds_end": null,
"cds_length": 471,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001271471.3",
"protein_id": "NP_001258400.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 146,
"cds_start": 116,
"cds_end": null,
"cds_length": 441,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000536917.2",
"protein_id": "ENSP00000443421.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 146,
"cds_start": 116,
"cds_end": null,
"cds_length": 441,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000542846.5",
"protein_id": "ENSP00000440248.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 102,
"cds_start": 116,
"cds_end": null,
"cds_length": 311,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 527,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "n.143G>A",
"hgvs_p": null,
"transcript": "ENST00000412777.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}