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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: 4-105818436-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105818436&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105818436,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000394728.4",
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "NM_001370181.1",
"protein_id": "NP_001357110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": "ENST00000515279.6",
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "ENST00000515279.6",
"protein_id": "ENSP00000422354.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": "NM_001370181.1",
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "ENST00000360505.9",
"protein_id": "ENSP00000353695.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "ENST00000394728.4",
"protein_id": "ENSP00000378216.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2416,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.980-4518G>T",
"hgvs_p": null,
"transcript": "ENST00000394730.7",
"protein_id": "ENSP00000378218.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "NM_001031720.3",
"protein_id": "NP_001026890.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4122,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.980-4518G>T",
"hgvs_p": null,
"transcript": "NM_024751.3",
"protein_id": "NP_079027.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "INTS12",
"gene_hgnc_id": 25067,
"hgvs_c": "c.30+21755C>A",
"hgvs_p": null,
"transcript": "ENST00000510876.1",
"protein_id": "ENSP00000422856.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "n.1492-4518G>T",
"hgvs_p": null,
"transcript": "ENST00000484843.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTCD-AS1",
"gene_hgnc_id": 41117,
"hgvs_c": "n.60+8677C>A",
"hgvs_p": null,
"transcript": "ENST00000504955.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "GSTCD-AS1",
"gene_hgnc_id": 41117,
"hgvs_c": "n.314+2106C>A",
"hgvs_p": null,
"transcript": "ENST00000506527.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "GSTCD-AS1",
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"hgvs_c": "n.180+2106C>A",
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"transcript": "ENST00000509003.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "n.580-4518G>T",
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"transcript": "ENST00000515255.5",
"protein_id": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "GSTCD-AS1",
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"hgvs_c": "n.406+2106C>A",
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},
{
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],
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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": 4,
"intron_rank": 3,
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"gene_symbol": "GSTCD-AS1",
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"hgvs_c": "n.301+2623C>A",
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"transcript": "ENST00000811943.1",
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},
{
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],
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"gene_symbol": "GSTCD-AS1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "GSTCD-AS1",
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"hgvs_c": "n.544+977C>A",
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"transcript": "ENST00000811945.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GSTCD-AS1",
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"hgvs_c": "n.319+2106C>A",
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},
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],
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},
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],
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"gene_symbol": "GSTCD",
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"hgvs_c": "c.1241-4518G>T",
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"transcript": "XM_011532248.4",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
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"transcript": "XM_011532249.4",
"protein_id": "XP_011530551.1",
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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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTCD",
"gene_hgnc_id": 25806,
"hgvs_c": "c.1241-4518G>T",
"hgvs_p": null,
"transcript": "XM_011532252.4",
"protein_id": "XP_011530554.1",
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},
{
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"consequences": [
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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},
{
"score": -12,
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"BA1"
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"verdict": "Benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}