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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: 12-133201580-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=133201580&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 133201580,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000536435.7",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.458-564G>A",
"hgvs_p": null,
"transcript": "NM_003415.3",
"protein_id": "NP_003406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13390,
"mane_select": "ENST00000536435.7",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.458-564G>A",
"hgvs_p": null,
"transcript": "ENST00000536435.7",
"protein_id": "ENSP00000444412.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13390,
"mane_select": "NM_003415.3",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.458-564G>A",
"hgvs_p": null,
"transcript": "ENST00000228289.9",
"protein_id": "ENSP00000228289.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"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": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256825",
"gene_hgnc_id": null,
"hgvs_c": "c.1059-564G>A",
"hgvs_p": null,
"transcript": "ENST00000540096.2",
"protein_id": "ENSP00000457704.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": -4,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1374,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.564-564G>A",
"hgvs_p": null,
"transcript": "ENST00000541009.6",
"protein_id": "ENSP00000439539.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3773,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.331-564G>A",
"hgvs_p": null,
"transcript": "ENST00000541211.6",
"protein_id": "ENSP00000442446.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 781,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.235-564G>A",
"hgvs_p": null,
"transcript": "ENST00000539248.6",
"protein_id": "ENSP00000467781.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.363-564G>A",
"hgvs_p": null,
"transcript": "ENST00000592241.5",
"protein_id": "ENSP00000467922.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.130-564G>A",
"hgvs_p": null,
"transcript": "ENST00000542711.6",
"protein_id": "ENSP00000437858.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 861,
"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,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZNF268",
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"hgvs_c": "c.34-564G>A",
"hgvs_p": null,
"transcript": "ENST00000536899.6",
"protein_id": "ENSP00000438941.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 68,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "n.*101-564G>A",
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"transcript": "ENST00000588312.2",
"protein_id": "ENSP00000466622.1",
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},
{
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],
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"gene_symbol": "ZNF268",
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"transcript": "NM_001165881.3",
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},
{
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],
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"gene_symbol": "ZNF268",
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"hgvs_c": "c.209-564G>A",
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"transcript": "NM_001165882.3",
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},
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],
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"gene_symbol": "ZNF268",
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"hgvs_c": "c.564-564G>A",
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],
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},
{
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],
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},
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"transcript": "NM_001165883.2",
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},
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],
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"hgvs_c": "c.363-564G>A",
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"transcript": "NM_001165887.2",
"protein_id": "NP_001159359.1",
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},
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],
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"intron_rank": 3,
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "ZNF268",
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"hgvs_c": "c.34-564G>A",
"hgvs_p": null,
"transcript": "NM_001165884.3",
"protein_id": "NP_001159356.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "n.390-564G>A",
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"transcript": "ENST00000534953.1",
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},
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},
{
"aa_ref": null,
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}
],
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"gnomad_genomes_af": 0.343822,
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"gnomad_genomes_ac": 52188,
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"gnomad_genomes_homalt": 9400,
"gnomad_mito_homoplasmic": null,
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"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": -0.299,
"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,
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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": "ENST00000536435.7",
"gene_symbol": "ZNF268",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000540096.2",
"gene_symbol": "ENSG00000256825",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1059-564G>A",
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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
}