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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: 22-19210716-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19210716&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19210716,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000427926.6",
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "NM_007098.4",
"protein_id": "NP_009029.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": -4,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "ENST00000427926.6",
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "ENST00000427926.6",
"protein_id": "ENSP00000441158.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": -4,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "NM_007098.4",
"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": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "ENST00000621271.4",
"protein_id": "ENSP00000485020.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": -4,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.3086-207T>A",
"hgvs_p": null,
"transcript": "ENST00000615606.4",
"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": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.3066-207T>A",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": 4859,
"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": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "NM_001835.4",
"protein_id": "NP_001826.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": -4,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5347,
"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": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "XM_017028953.3",
"protein_id": "XP_016884442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1632,
"cds_start": -4,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5494,
"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": 18,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.2952-207T>A",
"hgvs_p": null,
"transcript": "XM_017028954.3",
"protein_id": "XP_016884443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1602,
"cds_start": -4,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5404,
"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": 18,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.2892-207T>A",
"hgvs_p": null,
"transcript": "XM_047441511.1",
"protein_id": "XP_047297467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
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"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"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": 32,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "XM_047441512.1",
"protein_id": "XP_047297468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.2892-207T>A",
"hgvs_p": null,
"transcript": "XM_047441513.1",
"protein_id": "XP_047297469.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CLTCL1",
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"transcript": "XM_017028955.3",
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},
{
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],
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"exon_count": 31,
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.3066-207T>A",
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"transcript": "XM_017028956.3",
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},
{
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],
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"gene_symbol": "CLTCL1",
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],
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"transcript": "XM_047441515.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.2892-207T>A",
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],
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.2952-207T>A",
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"transcript": "XM_047441517.1",
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},
{
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],
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"intron_rank": 18,
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.2892-207T>A",
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"transcript": "XM_047441518.1",
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},
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],
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.3066-207T>A",
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},
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],
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},
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],
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.3066-207T>A",
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"transcript": "XM_047441522.1",
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"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 19,
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"gene_symbol": "CLTCL1",
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"hgvs_c": "c.3066-207T>A",
"hgvs_p": null,
"transcript": "XM_017028957.3",
"protein_id": "XP_016884446.1",
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{
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{
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000427926.6",
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"inheritance_mode": "AR,AD",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}