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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: 14-73252595-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73252595&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73252595,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000644200.2",
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.968-54G>A",
"hgvs_p": null,
"transcript": "NM_001365906.3",
"protein_id": "NP_001352835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5889,
"mane_select": "ENST00000644200.2",
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.968-54G>A",
"hgvs_p": null,
"transcript": "ENST00000644200.2",
"protein_id": "ENSP00000495882.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5889,
"mane_select": "NM_001365906.3",
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.968-54G>A",
"hgvs_p": null,
"transcript": "ENST00000216658.9",
"protein_id": "ENSP00000216658.5",
"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": 4182,
"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": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.887-54G>A",
"hgvs_p": null,
"transcript": "ENST00000555123.5",
"protein_id": "ENSP00000452455.1",
"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": 4108,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.968-54G>A",
"hgvs_p": null,
"transcript": "ENST00000554301.5",
"protein_id": "ENSP00000451803.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4090,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.968-54G>A",
"hgvs_p": null,
"transcript": "NM_001365907.2",
"protein_id": "NP_001352836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5754,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.968-54G>A",
"hgvs_p": null,
"transcript": "ENST00000555445.5",
"protein_id": "ENSP00000451729.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4282,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.887-54G>A",
"hgvs_p": null,
"transcript": "NM_173462.4",
"protein_id": "NP_775733.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5808,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.887-54G>A",
"hgvs_p": null,
"transcript": "ENST00000340738.9",
"protein_id": "ENSP00000345395.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.980-54G>A",
"hgvs_p": null,
"transcript": "NR_158677.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "n.1061-54G>A",
"hgvs_p": null,
"transcript": "NR_158678.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.1049-54G>A",
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"transcript": "XM_047431872.1",
"protein_id": "XP_047287828.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 9,
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"gene_symbol": "PAPLN",
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"hgvs_c": "c.989-54G>A",
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"transcript": "XM_047431875.1",
"protein_id": "XP_047287831.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PAPLN",
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"hgvs_c": "c.968-54G>A",
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},
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],
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 7,
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"gene_symbol": "PAPLN",
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"hgvs_c": "c.1049-54G>A",
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},
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],
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"transcript": "XM_011537294.3",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "PAPLN",
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"hgvs_c": "c.1049-54G>A",
"hgvs_p": null,
"transcript": "XM_047431873.1",
"protein_id": "XP_047287829.1",
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],
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},
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},
{
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],
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"gene_symbol": "PAPLN",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"hgvs_c": "c.1049-54G>A",
"hgvs_p": null,
"transcript": "XM_047431876.1",
"protein_id": "XP_047287832.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PAPLN",
"gene_hgnc_id": 19262,
"dbsnp": "rs8017937",
"frequency_reference_population": 0.11099839,
"hom_count_reference_population": 13838,
"allele_count_reference_population": 176162,
"gnomad_exomes_af": 0.104706,
"gnomad_genomes_af": 0.17032,
"gnomad_exomes_ac": 150240,
"gnomad_genomes_ac": 25922,
"gnomad_exomes_homalt": 10445,
"gnomad_genomes_homalt": 3393,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.001,
"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": "ENST00000644200.2",
"gene_symbol": "PAPLN",
"hgnc_id": 19262,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.968-54G>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
}