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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: 4-26334621-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26334621&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 26334621,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000355476.8",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.20+13573C>A",
"hgvs_p": null,
"transcript": "NM_015874.6",
"protein_id": "NP_056958.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000355476.8",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.20+13573C>A",
"hgvs_p": null,
"transcript": "ENST00000355476.8",
"protein_id": "ENSP00000347659.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015874.6",
"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": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.59+13806C>A",
"hgvs_p": null,
"transcript": "ENST00000361572.10",
"protein_id": "ENSP00000354528.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"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": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.-167+13573C>A",
"hgvs_p": null,
"transcript": "ENST00000348160.9",
"protein_id": "ENSP00000339699.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1998,
"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": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.-47+14733C>A",
"hgvs_p": null,
"transcript": "ENST00000345843.8",
"protein_id": "ENSP00000305815.6",
"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": 1682,
"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": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.-47+12951C>A",
"hgvs_p": null,
"transcript": "ENST00000507561.5",
"protein_id": "ENSP00000423907.1",
"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": 1689,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.59+13806C>A",
"hgvs_p": null,
"transcript": "NM_001374400.1",
"protein_id": "NP_001361329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5709,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.59+13806C>A",
"hgvs_p": null,
"transcript": "NM_005349.4",
"protein_id": "NP_005340.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5827,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.59+13806C>A",
"hgvs_p": null,
"transcript": "ENST00000342295.6",
"protein_id": "ENSP00000345206.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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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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"gene_symbol": "RBPJ",
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"hgvs_c": "c.59+13806C>A",
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"transcript": "ENST00000512671.6",
"protein_id": "ENSP00000423644.2",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.-166-27825C>A",
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"transcript": "NM_001374401.1",
"protein_id": "NP_001361330.1",
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},
{
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],
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},
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],
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"gene_symbol": "RBPJ",
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],
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],
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},
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},
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],
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"gene_symbol": "RBPJ",
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"hgvs_c": "c.-47+14733C>A",
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"transcript": "NM_203283.5",
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],
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},
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],
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"gene_symbol": "RBPJ",
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},
{
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},
{
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}
],
"gene_symbol": "RBPJ",
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"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.046,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355476.8",
"gene_symbol": "RBPJ",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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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
}