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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: 2-233498009-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233498009&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233498009,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000678225.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2715+539C>T",
"hgvs_p": null,
"transcript": "NM_001365479.2",
"protein_id": "NP_001352408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": "ENST00000678225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2715+539C>T",
"hgvs_p": null,
"transcript": "ENST00000678225.2",
"protein_id": "ENSP00000502952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": "NM_001365479.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2712+539C>T",
"hgvs_p": null,
"transcript": "ENST00000427112.6",
"protein_id": "ENSP00000387898.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": -4,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2716-366C>T",
"hgvs_p": null,
"transcript": "NM_001382296.1",
"protein_id": "NP_001369225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": -4,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2715+539C>T",
"hgvs_p": null,
"transcript": "NM_001382295.1",
"protein_id": "NP_001369224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2712+539C>T",
"hgvs_p": null,
"transcript": "NM_018218.4",
"protein_id": "NP_060688.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": -4,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2712+539C>T",
"hgvs_p": null,
"transcript": "ENST00000251722.10",
"protein_id": "ENSP00000251722.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": -4,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2715+539C>T",
"hgvs_p": null,
"transcript": "NM_001382297.1",
"protein_id": "NP_001369226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2442+539C>T",
"hgvs_p": null,
"transcript": "NM_001382298.1",
"protein_id": "NP_001369227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1145,
"cds_start": -4,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2559+539C>T",
"hgvs_p": null,
"transcript": "NM_001382299.1",
"protein_id": "NP_001369228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2715+539C>T",
"hgvs_p": null,
"transcript": "NM_001382300.1",
"protein_id": "NP_001369229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3641,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.237+539C>T",
"hgvs_p": null,
"transcript": "ENST00000430158.5",
"protein_id": "ENSP00000388121.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.983+539C>T",
"hgvs_p": null,
"transcript": "ENST00000409945.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.602+539C>T",
"hgvs_p": null,
"transcript": "ENST00000483216.1",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "USP40",
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"hgvs_c": "n.2901+539C>T",
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"transcript": "NR_168049.1",
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 24,
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"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.2899+539C>T",
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"transcript": "NR_168050.1",
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},
{
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],
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"gene_symbol": "USP40",
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"hgvs_c": "n.2833+539C>T",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.2931+539C>T",
"hgvs_p": null,
"transcript": "NR_168052.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "n.2940+539C>T",
"hgvs_p": null,
"transcript": "NR_168053.1",
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},
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"strand": false,
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],
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"intron_rank": 22,
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"gene_symbol": "USP40",
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},
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"strand": false,
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],
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"intron_rank": 23,
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"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2727+539C>T",
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"protein_id": "XP_011509699.1",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2727+539C>T",
"hgvs_p": null,
"transcript": "XM_011511398.4",
"protein_id": "XP_011509700.2",
"transcript_support_level": null,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "USP40",
"gene_hgnc_id": 20069,
"hgvs_c": "c.2454+539C>T",
"hgvs_p": null,
"transcript": "XM_011511399.3",
"protein_id": "XP_011509701.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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}
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}