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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: 10-114372156-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114372156&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114372156,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001287824.2",
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001001936.3",
"protein_id": "NP_001001936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": null,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304129.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001936.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000304129.9",
"protein_id": "ENSP00000303042.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": null,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001936.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304129.9"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000369271.7",
"protein_id": "ENSP00000358276.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369271.7"
},
{
"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": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000941481.1",
"protein_id": "ENSP00000611540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941481.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001287824.2",
"protein_id": "NP_001274753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 871,
"cds_start": null,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287824.2"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000853964.1",
"protein_id": "ENSP00000524023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853964.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000853966.1",
"protein_id": "ENSP00000524025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": null,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853966.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.70+26695A>T",
"hgvs_p": null,
"transcript": "ENST00000853965.1",
"protein_id": "ENSP00000524024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853965.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001351065.2",
"protein_id": "NP_001337994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": null,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351065.2"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000941480.1",
"protein_id": "ENSP00000611539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": null,
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"cds_length": 2541,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941480.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001351077.2",
"protein_id": "NP_001338006.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001351077.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "ENST00000853967.1",
"protein_id": "ENSP00000524026.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000853967.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.17-31425A>T",
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"transcript": "NM_001351078.2",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001351078.2"
},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "AFAP1L2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001351079.2",
"protein_id": "NP_001338008.1",
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},
{
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],
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.70+26695A>T",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.70+26695A>T",
"hgvs_p": null,
"transcript": "NM_001351068.2",
"protein_id": "NP_001337997.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.70+26695A>T",
"hgvs_p": null,
"transcript": "NM_001351064.2",
"protein_id": "NP_001337993.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "AFAP1L2",
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},
{
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"strand": false,
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],
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.17-31425A>T",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_032550.4",
"protein_id": "NP_115939.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032550.4"
},
{
"aa_ref": null,
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"canonical": false,
"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": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.17-31425A>T",
"hgvs_p": null,
"transcript": "NM_001351074.2",
"protein_id": "NP_001338003.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351074.2"
},
{
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"protein_coding": true,
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{
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{
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"biotype": "pseudogene",
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],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.168921,
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"gnomad_genomes_ac": 25705,
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"gnomad_genomes_homalt": 2747,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.107,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001287824.2",
"gene_symbol": "AFAP1L2",
"hgnc_id": 25901,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}