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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: 5-168431457-TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168431457&ref=TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168431457,
"ref": "TCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000265293.9",
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.2280+29_2280+60delGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTG",
"hgvs_p": null,
"transcript": "NM_015238.3",
"protein_id": "NP_056053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "ENST00000265293.9",
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.2280+14_2280+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000265293.9",
"protein_id": "ENSP00000265293.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": "NM_015238.3",
"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": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.2163+14_2163+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000393895.7",
"protein_id": "ENSP00000377473.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": -4,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3980,
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.1608+14_1608+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000524228.5",
"protein_id": "ENSP00000429339.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": -4,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "n.81+14_81+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000522140.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1015,
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.2280+29_2280+60delGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTG",
"hgvs_p": null,
"transcript": "NM_001161661.2",
"protein_id": "NP_001155133.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 23,
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"gene_symbol": "WWC1",
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"hgvs_c": "c.2280+14_2280+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000521089.5",
"protein_id": "ENSP00000427772.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3562,
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.2280+29_2280+60delGCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTG",
"hgvs_p": null,
"transcript": "NM_001161662.2",
"protein_id": "NP_001155134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1118,
"cds_start": -4,
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"cds_length": 3357,
"cdna_start": null,
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"cdna_length": 7151,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "WWC1",
"gene_hgnc_id": 29435,
"hgvs_c": "c.258+14_258+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
"hgvs_p": null,
"transcript": "ENST00000524038.5",
"protein_id": "ENSP00000428084.1",
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},
{
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],
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"hgvs_c": "n.363+14_363+45delCTGGCTGGCTGGCTGGCTGGCTGGCTGGCTGG",
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},
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"acmg_by_gene": [
{
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}
],
"message": null
}