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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: 11-72088556-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72088556&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72088556,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_145309.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "NM_145309.6",
"protein_id": "NP_660352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "ENST00000289488.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "ENST00000289488.8",
"protein_id": "ENSP00000289488.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "NM_145309.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-321-4940C>T",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "ENST00000541614.5",
"protein_id": "ENSP00000438522.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "ENST00000324866.11",
"protein_id": "ENSP00000440693.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "n.-56+176C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "n.-56+176C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "n.-56+176C>T",
"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": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-321-4940C>T",
"hgvs_p": null,
"transcript": "NM_001145308.5",
"protein_id": "NP_001138780.1",
"transcript_support_level": null,
"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": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-459+176C>T",
"hgvs_p": null,
"transcript": "NM_001145309.4",
"protein_id": "NP_001138781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-459+176C>T",
"hgvs_p": null,
"transcript": "NM_001145310.4",
"protein_id": "NP_001138782.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "LRRC51",
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"hgvs_c": "c.-56+176C>T",
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"transcript": "NM_001318803.2",
"protein_id": "NP_001305732.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-55-473C>T",
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"transcript": "ENST00000538413.6",
"protein_id": "ENSP00000438762.2",
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"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "LRRC51",
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"hgvs_c": "c.-56+176C>T",
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"transcript": "ENST00000538478.5",
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},
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],
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"gene_symbol": "LRRC51",
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"transcript": "ENST00000642648.1",
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},
{
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],
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"gene_symbol": "LRRC51",
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"hgvs_c": "c.-56+176C>T",
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"transcript": "ENST00000647530.1",
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},
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],
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"gene_symbol": "LRRC51",
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"transcript": "NM_001205138.4",
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},
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],
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"gene_symbol": "LRRC51",
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"hgvs_c": "c.28+176C>T",
"hgvs_p": null,
"transcript": "ENST00000423494.6",
"protein_id": "ENSP00000441249.1",
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},
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],
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"exon_count": 6,
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"gene_symbol": "LRRC51",
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"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
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},
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],
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},
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],
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},
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],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
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"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "NM_001271471.3",
"protein_id": "NP_001258400.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-56+176C>T",
"hgvs_p": null,
"transcript": "ENST00000536917.2",
"protein_id": "ENSP00000443421.1",
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},
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"phenotype_combined": "not provided",
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}
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}