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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: 18-5604241-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=5604241&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 5604241,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001384698.1",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384698.1",
"protein_id": "NP_001371627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4121,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384699.1",
"protein_id": "NP_001371628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": -4,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384700.1",
"protein_id": "NP_001371629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4067,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384701.1",
"protein_id": "NP_001371630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4040,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384702.1",
"protein_id": "NP_001371631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4031,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384703.1",
"protein_id": "NP_001371632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": -4,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4004,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384704.1",
"protein_id": "NP_001371633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3998,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384705.1",
"protein_id": "NP_001371634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3986,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+8099A>G",
"hgvs_p": null,
"transcript": "NM_001281535.2",
"protein_id": "NP_001268464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384683.1",
"protein_id": "NP_001371612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
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"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+8099A>G",
"hgvs_p": null,
"transcript": "ENST00000545076.5",
"protein_id": "ENSP00000488626.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
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"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "NM_001384706.1",
"protein_id": "NP_001371635.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "n.324+26136A>G",
"hgvs_p": null,
"transcript": "ENST00000578431.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "n.-306+26136A>G",
"hgvs_p": null,
"transcript": "ENST00000637651.1",
"protein_id": "ENSP00000489681.1",
"transcript_support_level": 5,
"aa_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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "XM_047437369.1",
"protein_id": "XP_047293325.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 996,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "XM_047437370.1",
"protein_id": "XP_047293326.1",
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
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"transcript": "XM_047437372.1",
"protein_id": "XP_047293328.1",
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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": 22,
"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "XM_047437379.1",
"protein_id": "XP_047293335.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-306+26136A>G",
"hgvs_p": null,
"transcript": "XM_047437384.1",
"protein_id": "XP_047293340.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"dbsnp": "rs4798376",
"frequency_reference_population": 0.27762908,
"hom_count_reference_population": 6065,
"allele_count_reference_population": 41907,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.277629,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 41907,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6065,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.747,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001384698.1",
"gene_symbol": "EPB41L3",
"hgnc_id": 3380,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-306+26136A>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
}