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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: 1-235380161-TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235380161&ref=TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235380161,
"ref": "TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000642610.2",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+24_100+65delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_003193.5",
"protein_id": "NP_003184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000642610.2",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000642610.2",
"protein_id": "ENSP00000494796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_003193.5",
"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": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000647186.1",
"protein_id": "ENSP00000494775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2486,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000366601.8",
"protein_id": "ENSP00000355560.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1683,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+24_100+65delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001287801.2",
"protein_id": "NP_001274730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5527,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000543662.4",
"protein_id": "ENSP00000439170.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000644217.1",
"protein_id": "ENSP00000494646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1772,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+24_100+65delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001079515.3",
"protein_id": "NP_001072983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5422,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000406207.5",
"protein_id": "ENSP00000384571.1",
"transcript_support_level": 5,
"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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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null,
"transcript": "ENST00000645205.1",
"protein_id": "ENSP00000495823.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
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"transcript": "ENST00000645351.1",
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},
{
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],
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"gene_symbol": "ENSG00000285053",
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],
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"gene_symbol": "ENSG00000285053",
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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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},
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],
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],
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},
{
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],
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},
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642610.2",
"gene_symbol": "TBCE",
"hgnc_id": 11582,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647186.1",
"gene_symbol": "ENSG00000285053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.100+13_100+54delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}