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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: 3-12485743-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12485743&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12485743,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000284995.11",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+863C>T",
"hgvs_p": null,
"transcript": "NM_025265.4",
"protein_id": "NP_079541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": "ENST00000284995.11",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+863C>T",
"hgvs_p": null,
"transcript": "ENST00000284995.11",
"protein_id": "ENSP00000284995.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": "NM_025265.4",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1115C>T",
"hgvs_p": null,
"transcript": "ENST00000402228.7",
"protein_id": "ENSP00000385976.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": -4,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1226C>T",
"hgvs_p": null,
"transcript": "ENST00000454502.6",
"protein_id": "ENSP00000392029.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1909,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1226C>T",
"hgvs_p": null,
"transcript": "NM_001321278.2",
"protein_id": "NP_001308207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1226C>T",
"hgvs_p": null,
"transcript": "ENST00000446004.6",
"protein_id": "ENSP00000406238.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1912,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+863C>T",
"hgvs_p": null,
"transcript": "ENST00000679492.1",
"protein_id": "ENSP00000505331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2182,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1115C>T",
"hgvs_p": null,
"transcript": "ENST00000680857.1",
"protein_id": "ENSP00000506578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.-18+1226C>T",
"hgvs_p": null,
"transcript": "ENST00000412698.3",
"protein_id": "ENSP00000408528.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
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"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": 11,
"intron_rank": 1,
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"gene_symbol": "TSEN2",
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"hgvs_c": "c.-18+863C>T",
"hgvs_p": null,
"transcript": "ENST00000444864.6",
"protein_id": "ENSP00000407974.2",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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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": 13,
"intron_rank": 1,
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"gene_symbol": "TSEN2",
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"hgvs_c": "c.-18+1226C>T",
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"transcript": "ENST00000680275.1",
"protein_id": "ENSP00000505417.1",
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},
{
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],
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},
{
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],
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],
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"hgvs_c": "c.-18+1226C>T",
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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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"hgvs_c": "c.-18+863C>T",
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},
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],
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"gene_symbol": "TSEN2",
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"hgvs_c": "c.-18+1226C>T",
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},
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}
],
"gene_symbol": "TSEN2",
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"dbsnp": "rs10510421",
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.06367,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 9693,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 672,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.129,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000284995.11",
"gene_symbol": "TSEN2",
"hgnc_id": 28422,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-18+863C>T",
"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
}