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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: 11-130077844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130077844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130077844,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001642.3",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "NM_001142276.2",
"protein_id": "NP_001135748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338167.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142276.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000338167.10",
"protein_id": "ENSP00000345444.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142276.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338167.10"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000263574.9",
"protein_id": "ENSP00000263574.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263574.9"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000528499.5",
"protein_id": "ENSP00000435914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528499.5"
},
{
"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": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000345598.9",
"protein_id": "ENSP00000263575.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345598.9"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000969909.1",
"protein_id": "ENSP00000639968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969909.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881676.1",
"protein_id": "ENSP00000551735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": null,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881676.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881675.1",
"protein_id": "ENSP00000551734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": null,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881675.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881682.1",
"protein_id": "ENSP00000551741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
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"cds_length": 2319,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881682.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881684.1",
"protein_id": "ENSP00000551743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
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"cds_length": 2301,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881684.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "NM_001642.3",
"protein_id": "NP_001633.1",
"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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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "APLP2",
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"hgvs_c": "c.105+7762G>A",
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"transcript": "ENST00000650012.1",
"protein_id": "ENSP00000497691.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
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"gene_symbol": "APLP2",
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"hgvs_c": "c.135+7097G>A",
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"transcript": "NM_001243299.2",
"protein_id": "NP_001230228.1",
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"feature": "NM_001243299.2"
},
{
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"strand": true,
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],
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"gene_symbol": "APLP2",
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"hgvs_c": "c.105+7762G>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "NM_001382527.1",
"protein_id": "NP_001369456.1",
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"cdna_start": null,
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "APLP2",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "APLP2",
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"hgvs_c": "c.105+7762G>A",
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"transcript": "NM_001382528.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881679.1",
"protein_id": "ENSP00000551738.1",
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},
{
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],
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"gene_symbol": "APLP2",
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},
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],
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},
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],
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"gene_symbol": "APLP2",
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"transcript": "ENST00000881678.1",
"protein_id": "ENSP00000551737.1",
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"biotype": "protein_coding",
"feature": "ENST00000881678.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "APLP2",
"gene_hgnc_id": 598,
"hgvs_c": "c.105+7762G>A",
"hgvs_p": null,
"transcript": "ENST00000881690.1",
"protein_id": "ENSP00000551749.1",
"transcript_support_level": null,
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"feature": "ENST00000881690.1"
},
{
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"strand": true,
"consequences": [
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],
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{
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],
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"gnomad_genomes_af": 0.259206,
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"gnomad_genomes_ac": 39431,
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"gnomad_genomes_homalt": 7820,
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"computational_score_selected": -0.800000011920929,
"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_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.242,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001642.3",
"gene_symbol": "APLP2",
"hgnc_id": 598,
"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
}