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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: 16-24887651-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=24887651&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 24887651,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000424767.7",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.665-3218C>G",
"hgvs_p": null,
"transcript": "NM_001352248.3",
"protein_id": "NP_001339177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": "ENST00000424767.7",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.665-3218C>G",
"hgvs_p": null,
"transcript": "ENST00000424767.7",
"protein_id": "ENSP00000416782.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": "NM_001352248.3",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.665-3218C>G",
"hgvs_p": null,
"transcript": "ENST00000347898.7",
"protein_id": "ENSP00000289932.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2745,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.473-3218C>G",
"hgvs_p": null,
"transcript": "ENST00000565769.5",
"protein_id": "ENSP00000457179.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.665-3218C>G",
"hgvs_p": null,
"transcript": "NM_001352242.2",
"protein_id": "NP_001339171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2471,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.626-3218C>G",
"hgvs_p": null,
"transcript": "NM_001352235.2",
"protein_id": "NP_001339164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584-3218C>G",
"hgvs_p": null,
"transcript": "NM_001352250.2",
"protein_id": "NP_001339179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2318,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584-3218C>G",
"hgvs_p": null,
"transcript": "NM_001394076.1",
"protein_id": "NP_001381005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.560-3218C>G",
"hgvs_p": null,
"transcript": "NM_001258411.3",
"protein_id": "NP_001245340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
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"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 8,
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"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.560-3218C>G",
"hgvs_p": null,
"transcript": "NM_001352238.2",
"protein_id": "NP_001339167.1",
"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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"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": 16,
"intron_rank": 8,
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"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.560-3218C>G",
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"transcript": "ENST00000567758.6",
"protein_id": "ENSP00000454401.1",
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},
{
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],
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"transcript": "NM_001394077.1",
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},
{
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.473-3218C>G",
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"transcript": "NM_001258413.3",
"protein_id": "NP_001245342.1",
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},
{
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.473-3218C>G",
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},
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],
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"hgvs_c": "c.473-3218C>G",
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"transcript": "NM_001352249.2",
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},
{
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],
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"gene_symbol": "SLC5A11",
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"transcript": "NM_001352259.2",
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.455-3218C>G",
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},
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.455-3218C>G",
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"transcript": "ENST00000568579.6",
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},
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.664+3520C>G",
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],
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},
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],
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"gene_symbol": "SLC5A11",
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"hgvs_c": "c.368-3218C>G",
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"transcript": "NM_001394078.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.335-3218C>G",
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"protein_id": "NP_001381008.1",
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.23,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000424767.7",
"gene_symbol": "SLC5A11",
"hgnc_id": 23091,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.665-3218C>G",
"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
}