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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: 21-26128016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=26128016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 26128016,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000346798.8",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "NM_000484.4",
"protein_id": "NP_000475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "ENST00000346798.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "ENST00000346798.8",
"protein_id": "ENSP00000284981.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": "NM_000484.4",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "ENST00000357903.7",
"protein_id": "ENSP00000350578.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3543,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-37944G>A",
"hgvs_p": null,
"transcript": "ENST00000439274.6",
"protein_id": "ENSP00000398879.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2517,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "ENST00000348990.9",
"protein_id": "ENSP00000345463.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3355,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-37944G>A",
"hgvs_p": null,
"transcript": "ENST00000354192.7",
"protein_id": "ENSP00000346129.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "n.184-15870G>A",
"hgvs_p": null,
"transcript": "ENST00000474136.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1309,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "NM_001204301.2",
"protein_id": "NP_001191230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3529,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "ENST00000358918.7",
"protein_id": "ENSP00000351796.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2366,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null,
"transcript": "NM_201413.3",
"protein_id": "NP_958816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
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"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"hgvs_c": "c.42+12137G>A",
"hgvs_p": null,
"transcript": "NM_001136016.3",
"protein_id": "NP_001129488.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 746,
"cds_start": -4,
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"cdna_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": 17,
"intron_rank": 1,
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"gene_symbol": "APP",
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"hgvs_c": "c.42+12137G>A",
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"transcript": "ENST00000440126.7",
"protein_id": "ENSP00000387483.2",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 16,
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"gene_symbol": "APP",
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"hgvs_c": "c.58-15870G>A",
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"transcript": "NM_001204302.2",
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},
{
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],
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"gene_symbol": "APP",
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"hgvs_c": "c.58-37944G>A",
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"transcript": "NM_001136130.3",
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},
{
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],
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"transcript": "NM_001385253.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "APP",
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"hgvs_c": "c.58-15870G>A",
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"transcript": "NM_201414.3",
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "APP",
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"hgvs_c": "c.-48-15870G>A",
"hgvs_p": null,
"transcript": "NM_001136131.3",
"protein_id": "NP_001129603.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "APP",
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"hgvs_c": "c.-48-15870G>A",
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"transcript": "ENST00000359726.7",
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],
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],
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},
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],
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"gene_symbol": "APP",
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"hgvs_c": "n.249+632G>A",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124900466",
"gene_hgnc_id": null,
"hgvs_c": "n.8004-5034G>A",
"hgvs_p": null,
"transcript": "XR_007067829.1",
"protein_id": null,
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}
],
"gene_symbol": "APP",
"gene_hgnc_id": 620,
"dbsnp": "rs2830071",
"frequency_reference_population": 0.16124877,
"hom_count_reference_population": 2164,
"allele_count_reference_population": 24534,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.161249,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 24534,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2164,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"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": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.961,
"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": "ENST00000346798.8",
"gene_symbol": "APP",
"hgnc_id": 620,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.58-15870G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007067829.1",
"gene_symbol": "LOC124900466",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.8004-5034G>A",
"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
}