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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: 19-52646714-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52646714&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52646714,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001277945.2",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-449+8847G>T",
"hgvs_p": null,
"transcript": "NM_001277945.2",
"protein_id": "NP_001264874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-234+8847G>T",
"hgvs_p": null,
"transcript": "NM_001277946.2",
"protein_id": "NP_001264875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2684,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-322+8847G>T",
"hgvs_p": null,
"transcript": "NM_001277947.2",
"protein_id": "NP_001264876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2844,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-448-11561G>T",
"hgvs_p": null,
"transcript": "NM_001277948.2",
"protein_id": "NP_001264877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2772,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-361+8847G>T",
"hgvs_p": null,
"transcript": "NM_001277949.2",
"protein_id": "NP_001264878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2811,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-573+8847G>T",
"hgvs_p": null,
"transcript": "NM_001348015.2",
"protein_id": "NP_001334944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3023,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-591-1707G>T",
"hgvs_p": null,
"transcript": "NM_001348017.2",
"protein_id": "NP_001334946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3042,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-464-1707G>T",
"hgvs_p": null,
"transcript": "NM_001348018.2",
"protein_id": "NP_001334947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.-449+8847G>T",
"hgvs_p": null,
"transcript": "NM_001348019.2",
"protein_id": "NP_001334948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2971,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "c.142+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000687234.1",
"protein_id": "ENSP00000509087.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.142+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000594682.6",
"protein_id": "ENSP00000472147.2",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ENSG00000269825",
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"hgvs_c": "n.142+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000595171.5",
"protein_id": "ENSP00000516276.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ENSG00000269825",
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"hgvs_c": "n.142+8847G>T",
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"transcript": "ENST00000596440.5",
"protein_id": "ENSP00000516277.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.142+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000598536.5",
"protein_id": "ENSP00000516275.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000269825",
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"hgvs_c": "n.142+8847G>T",
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"transcript": "ENST00000600714.6",
"protein_id": "ENSP00000472392.2",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.142+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000601257.5",
"protein_id": "ENSP00000471703.2",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "ENSG00000269825",
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"hgvs_c": "n.137-11561G>T",
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"transcript": "ENST00000602232.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.143-1707G>T",
"hgvs_p": null,
"transcript": "ENST00000706195.1",
"protein_id": "ENSP00000516270.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.34+8847G>T",
"hgvs_p": null,
"transcript": "ENST00000706196.1",
"protein_id": "ENSP00000516271.1",
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},
{
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],
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"intron_rank": 1,
"intron_rank_end": null,
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*31-1707G>T",
"hgvs_p": null,
"transcript": "ENST00000706198.1",
"protein_id": "ENSP00000516273.1",
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"feature": null
}
],
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"dbsnp": "rs475188",
"frequency_reference_population": 0.5095087,
"hom_count_reference_population": 20445,
"allele_count_reference_population": 77428,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.509509,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 77428,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 20445,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.655,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001277945.2",
"gene_symbol": "ZNF83",
"hgnc_id": 13158,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-449+8847G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000600714.6",
"gene_symbol": "ENSG00000269825",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142+8847G>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
}