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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: 14-73246092-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73246092&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PAPLN",
"hgnc_id": 19262,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001365906.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "PAPLN-AS1",
"hgnc_id": 55451,
"hgvs_c": "n.-74C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000554614.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 65,
"alphamissense_prediction": null,
"alphamissense_score": 0.0926,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04331555962562561,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5889,
"cdna_start": 344,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001365906.3",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644200.2",
"protein_coding": true,
"protein_id": "NP_001352835.1",
"strand": true,
"transcript": "NM_001365906.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5889,
"cdna_start": 344,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644200.2",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365906.3",
"protein_coding": true,
"protein_id": "ENSP00000495882.2",
"strand": true,
"transcript": "ENST00000644200.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4182,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000216658.9",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000216658.5",
"strand": true,
"transcript": "ENST00000216658.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000555123.5",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452455.1",
"strand": true,
"transcript": "ENST00000555123.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "R",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5955,
"cdna_start": 412,
"cds_end": null,
"cds_length": 3930,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957731.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627790.1",
"strand": true,
"transcript": "ENST00000957731.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 335,
"cds_end": null,
"cds_length": 3903,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911608.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581667.1",
"strand": true,
"transcript": "ENST00000911608.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 414,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554301.5",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451803.1",
"strand": true,
"transcript": "ENST00000554301.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6095,
"cdna_start": 533,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911607.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581666.1",
"strand": true,
"transcript": "ENST00000911607.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6694,
"cdna_start": 438,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957729.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627788.1",
"strand": true,
"transcript": "ENST00000957729.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5925,
"cdna_start": 383,
"cds_end": null,
"cds_length": 3837,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957732.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627791.1",
"strand": true,
"transcript": "ENST00000957732.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 257,
"cds_end": null,
"cds_length": 3789,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001365907.2",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352836.1",
"strand": true,
"transcript": "NM_001365907.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1262,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 405,
"cds_end": null,
"cds_length": 3789,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000555445.5",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451729.1",
"strand": true,
"transcript": "ENST00000555445.5",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5808,
"cdna_start": 344,
"cds_end": null,
"cds_length": 3756,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_173462.4",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775733.3",
"strand": true,
"transcript": "NM_173462.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5834,
"cdna_start": 353,
"cds_end": null,
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"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000340738.9",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345395.5",
"strand": true,
"transcript": "ENST00000340738.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 1199,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 337,
"cds_end": null,
"cds_length": 3600,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864046.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534105.1",
"strand": true,
"transcript": "ENST00000864046.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1199,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5660,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3600,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911606.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581665.1",
"strand": true,
"transcript": "ENST00000911606.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 352,
"cds_end": null,
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"cds_start": 251,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957733.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627792.1",
"strand": true,
"transcript": "ENST00000957733.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 318,
"cds_end": null,
"cds_length": 3240,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957730.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627789.1",
"strand": true,
"transcript": "ENST00000957730.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6124,
"cdna_start": 579,
"cds_end": null,
"cds_length": 3918,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047431872.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287828.1",
"strand": true,
"transcript": "XM_047431872.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 419,
"cds_end": null,
"cds_length": 3858,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047431875.1",
"gene_hgnc_id": 19262,
"gene_symbol": "PAPLN",
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287831.1",
"strand": true,
"transcript": "XM_047431875.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": 409,
"cds_end": null,
"cds_length": 3837,
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