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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: 1-155317450-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155317450&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155317450,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000368356.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.1256C>G",
"hgvs_p": null,
"transcript": "ENST00000543656.3",
"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": 1850,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.481-491G>C",
"hgvs_p": null,
"transcript": "NM_002004.4",
"protein_id": "NP_001995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": "ENST00000368356.9",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.481-491G>C",
"hgvs_p": null,
"transcript": "ENST00000368356.9",
"protein_id": "ENSP00000357340.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": "NM_002004.4",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.481-491G>C",
"hgvs_p": null,
"transcript": "ENST00000356657.10",
"protein_id": "ENSP00000349078.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.1249C>G",
"hgvs_p": null,
"transcript": "ENST00000446880.5",
"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": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.725C>G",
"hgvs_p": null,
"transcript": "ENST00000746586.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.1183C>G",
"hgvs_p": null,
"transcript": "NR_145424.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUSC1-AS1",
"gene_hgnc_id": 26680,
"hgvs_c": "n.908C>G",
"hgvs_p": null,
"transcript": "NR_145425.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1504,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.481-491G>C",
"hgvs_p": null,
"transcript": "NM_001135821.2",
"protein_id": "NP_001129293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1528,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "NM_001135822.2",
"protein_id": "NP_001129294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1219,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "NM_001242824.2",
"protein_id": "NP_001229753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
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"cds_length": 1062,
"cdna_start": null,
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"cdna_length": 1240,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "NM_001378424.1",
"protein_id": "NP_001365353.1",
"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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"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,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "NM_001378425.1",
"protein_id": "NP_001365354.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 353,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "ENST00000447866.5",
"protein_id": "ENSP00000391755.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "FDPS",
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"hgvs_c": "c.283-491G>C",
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"transcript": "ENST00000467076.5",
"protein_id": "ENSP00000480142.1",
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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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
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"hgvs_c": "c.283-491G>C",
"hgvs_p": null,
"transcript": "ENST00000612683.1",
"protein_id": "ENSP00000478235.1",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.481-491G>C",
"hgvs_p": null,
"transcript": "ENST00000491013.5",
"protein_id": "ENSP00000479557.1",
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.-33-491G>C",
"hgvs_p": null,
"transcript": "NM_001242825.2",
"protein_id": "NP_001229754.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": 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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "c.-33-491G>C",
"hgvs_p": null,
"transcript": "ENST00000611010.4",
"protein_id": "ENSP00000483188.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "FDPS",
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"hgvs_c": "c.481-491G>C",
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"transcript": "ENST00000465559.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FDPS",
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"hgvs_c": "n.447-491G>C",
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"transcript": "ENST00000461507.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.495-491G>C",
"hgvs_p": null,
"transcript": "ENST00000468479.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDPS",
"gene_hgnc_id": 3631,
"hgvs_c": "n.393-491G>C",
"hgvs_p": null,
"transcript": "ENST00000470171.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"splice_prediction_selected": "Benign",
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{
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"BS1",
"BS2"
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"verdict": "Benign",
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{
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"BS2"
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"verdict": "Benign",
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"gene_symbol": "RUSC1-AS1",
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}