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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: 19-4504569-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4504569&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4504569,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000301286.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Gly1336Ser",
"transcript": "NM_001367868.2",
"protein_id": "NP_001354797.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1371,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4125,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "ENST00000301286.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Gly1336Ser",
"transcript": "ENST00000301286.5",
"protein_id": "ENSP00000301286.4",
"transcript_support_level": 5,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1371,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4125,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "NM_001367868.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4009G>A",
"hgvs_p": "p.Gly1337Ser",
"transcript": "NM_001393888.1",
"protein_id": "NP_001380817.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1372,
"cds_start": 4009,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4009G>A",
"hgvs_p": "p.Gly1337Ser",
"transcript": "NM_001393889.1",
"protein_id": "NP_001380818.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1372,
"cds_start": 4009,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 4075,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4009G>A",
"hgvs_p": "p.Gly1337Ser",
"transcript": "ENST00000633942.1",
"protein_id": "ENSP00000488481.1",
"transcript_support_level": 5,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1372,
"cds_start": 4009,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 4107,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Gly1336Ser",
"transcript": "NM_001393890.1",
"protein_id": "NP_001380819.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1371,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Gly1336Ser",
"transcript": "NM_001393891.1",
"protein_id": "NP_001380820.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1371,
"cds_start": 4006,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4107,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4192G>A",
"hgvs_p": "p.Gly1398Ser",
"transcript": "XM_017027192.2",
"protein_id": "XP_016882681.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4311,
"cdna_end": null,
"cdna_length": 6688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4192G>A",
"hgvs_p": "p.Gly1398Ser",
"transcript": "XM_017027193.2",
"protein_id": "XP_016882682.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4192G>A",
"hgvs_p": "p.Gly1398Ser",
"transcript": "XM_017027194.2",
"protein_id": "XP_016882683.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4293,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.4189G>A",
"hgvs_p": "p.Gly1397Ser",
"transcript": "XM_011528233.3",
"protein_id": "XP_011526535.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1432,
"cds_start": 4189,
"cds_end": null,
"cds_length": 4299,
"cdna_start": 4308,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"dbsnp": "rs1159663200",
"frequency_reference_population": 0.0000013790288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137903,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15077516436576843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0911,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.638,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301286.5",
"gene_symbol": "PLIN4",
"hgnc_id": 29393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4006G>A",
"hgvs_p": "p.Gly1336Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}