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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: 15-89669579-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89669579&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89669579,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002666.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "NM_002666.5",
"protein_id": "NP_002657.3",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300055.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002666.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000300055.10",
"protein_id": "ENSP00000300055.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002666.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300055.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.800G>T",
"hgvs_p": "p.Arg267Leu",
"transcript": "ENST00000896664.1",
"protein_id": "ENSP00000566723.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 558,
"cds_start": 800,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896664.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.722G>T",
"hgvs_p": "p.Arg241Leu",
"transcript": "ENST00000896666.1",
"protein_id": "ENSP00000566725.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 532,
"cds_start": 722,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896666.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "NM_001145311.2",
"protein_id": "NP_001138783.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145311.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000430628.2",
"protein_id": "ENSP00000402167.2",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430628.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000896669.1",
"protein_id": "ENSP00000566728.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896669.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000957093.1",
"protein_id": "ENSP00000627152.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957093.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000957094.1",
"protein_id": "ENSP00000627153.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 522,
"cds_start": 692,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957094.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.686G>T",
"hgvs_p": "p.Arg229Leu",
"transcript": "ENST00000896667.1",
"protein_id": "ENSP00000566726.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 520,
"cds_start": 686,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896667.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000896665.1",
"protein_id": "ENSP00000566724.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 692,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896665.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu",
"transcript": "ENST00000896668.1",
"protein_id": "ENSP00000566727.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 466,
"cds_start": 692,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896668.1"
}
],
"gene_symbol": "PLIN1",
"gene_hgnc_id": 9076,
"dbsnp": "rs114583540",
"frequency_reference_population": 0.0014163973,
"hom_count_reference_population": 32,
"allele_count_reference_population": 2286,
"gnomad_exomes_af": 0.000762112,
"gnomad_genomes_af": 0.00769908,
"gnomad_exomes_ac": 1114,
"gnomad_genomes_ac": 1172,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 15,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01785185933113098,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.44999998807907104,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.1353,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.458,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.45,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002666.5",
"gene_symbol": "PLIN1",
"hgnc_id": 9076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Arg231Leu"
}
],
"clinvar_disease": "Monogenic diabetes,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Monogenic diabetes|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}