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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: 2-45754891-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=45754891&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 45754891,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000306156.8",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.349-88109G>A",
"hgvs_p": null,
"transcript": "NM_005400.3",
"protein_id": "NP_005391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "ENST00000306156.8",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.349-88109G>A",
"hgvs_p": null,
"transcript": "ENST00000306156.8",
"protein_id": "ENSP00000306124.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "NM_005400.3",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.400+53400G>A",
"hgvs_p": null,
"transcript": "ENST00000467135.5",
"protein_id": null,
"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": 1000,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.349-88109G>A",
"hgvs_p": null,
"transcript": "ENST00000421201.1",
"protein_id": "ENSP00000394574.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 939,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.250+76975G>A",
"hgvs_p": null,
"transcript": "ENST00000476675.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 570,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.49-85489G>A",
"hgvs_p": null,
"transcript": "ENST00000480453.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 582,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.245-15842G>A",
"hgvs_p": null,
"transcript": "ENST00000485176.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 372,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.180+53367G>A",
"hgvs_p": null,
"transcript": "ENST00000497602.1",
"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": 755,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.349-88109G>A",
"hgvs_p": null,
"transcript": "XM_005264428.2",
"protein_id": "XP_005264485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
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"cds_length": 2214,
"cdna_start": null,
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"cdna_length": 5945,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
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"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.60+56882G>A",
"hgvs_p": null,
"transcript": "XM_011532971.4",
"protein_id": "XP_011531273.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
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"gene_symbol": "PRKCE",
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"hgvs_c": "c.60+56882G>A",
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"transcript": "XM_011532975.4",
"protein_id": "XP_011531277.1",
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},
{
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],
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"gene_symbol": "PRKCE",
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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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"gene_symbol": "PRKCE",
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},
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],
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"gene_symbol": "PRKCE",
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},
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{
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}