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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: 11-70344214-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70344214&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70344214,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000253925.12",
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.1931+322G>A",
"hgvs_p": null,
"transcript": "NM_003626.5",
"protein_id": "NP_003617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "ENST00000253925.12",
"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": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.1931+322G>A",
"hgvs_p": null,
"transcript": "ENST00000253925.12",
"protein_id": "ENSP00000253925.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "NM_003626.5",
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.1931+322G>A",
"hgvs_p": null,
"transcript": "ENST00000389547.7",
"protein_id": "ENSP00000374198.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": -4,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "n.*160+322G>A",
"hgvs_p": null,
"transcript": "ENST00000526262.5",
"protein_id": "ENSP00000435752.1",
"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": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "n.*160+322G>A",
"hgvs_p": null,
"transcript": "ENST00000532504.5",
"protein_id": "ENSP00000433619.1",
"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": 5159,
"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": 32,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.2006+322G>A",
"hgvs_p": null,
"transcript": "NM_001378006.1",
"protein_id": "NP_001364935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": -4,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5435,
"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": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.1874+322G>A",
"hgvs_p": null,
"transcript": "ENST00000644155.1",
"protein_id": "ENSP00000496327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
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"cdna_length": 5996,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.1931+322G>A",
"hgvs_p": null,
"transcript": "NM_177423.3",
"protein_id": "NP_803172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": -4,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4051,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.140+322G>A",
"hgvs_p": null,
"transcript": "ENST00000528750.1",
"protein_id": "ENSP00000434445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": -4,
"cds_end": null,
"cds_length": 1166,
"cdna_start": null,
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"cdna_length": 1168,
"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,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.360+4908G>A",
"hgvs_p": null,
"transcript": "ENST00000530798.5",
"protein_id": "ENSP00000433114.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 235,
"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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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "n.91+3117G>A",
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"transcript": "ENST00000526074.5",
"protein_id": null,
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"aa_start": null,
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},
{
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],
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"gene_symbol": "PPFIA1",
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},
{
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"strand": true,
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],
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"gene_symbol": "PPFIA1",
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"hgvs_c": "n.*160+322G>A",
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"transcript": "ENST00000526369.3",
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},
{
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],
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],
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "PPFIA1",
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"hgvs_c": "n.326+322G>A",
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},
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],
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},
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],
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"gene_symbol": "PPFIA1",
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"transcript": "NR_045286.3",
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},
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],
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"gene_symbol": "PPFIA1",
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"hgvs_c": "c.2006+322G>A",
"hgvs_p": null,
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],
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"gene_symbol": "PPFIA1",
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"hgvs_c": "c.2006+322G>A",
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"transcript": "XM_011545308.4",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.2006+322G>A",
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"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"dbsnp": "rs3781646",
"frequency_reference_population": 0.17522508,
"hom_count_reference_population": 2694,
"allele_count_reference_population": 26664,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.175225,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 26664,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2694,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.625,
"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": "ENST00000253925.12",
"gene_symbol": "PPFIA1",
"hgnc_id": 9245,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1931+322G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000528607.1",
"gene_symbol": "ENSG00000254604",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.493+18662C>T",
"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
}