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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: 19-4506903-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4506903&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4506903,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001393888.1",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "NM_001367868.2",
"protein_id": "NP_001354797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301286.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367868.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000301286.5",
"protein_id": "ENSP00000301286.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367868.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301286.5"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3888+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966625.1",
"protein_id": "ENSP00000636684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1433,
"cds_start": null,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966625.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3885+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966622.1",
"protein_id": "ENSP00000636681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1432,
"cds_start": null,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966622.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "NM_001393888.1",
"protein_id": "NP_001380817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1372,
"cds_start": null,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393888.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "NM_001393889.1",
"protein_id": "NP_001380818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1372,
"cds_start": null,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393889.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000633942.1",
"protein_id": "ENSP00000488481.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1372,
"cds_start": null,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633942.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000901551.1",
"protein_id": "ENSP00000571610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1372,
"cds_start": null,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901551.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966624.1",
"protein_id": "ENSP00000636683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1372,
"cds_start": null,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966624.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "NM_001393890.1",
"protein_id": "NP_001380819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393890.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "NM_001393891.1",
"protein_id": "NP_001380820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393891.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000901550.1",
"protein_id": "ENSP00000571609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901550.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966619.1",
"protein_id": "ENSP00000636678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966619.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3702+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966620.1",
"protein_id": "ENSP00000636679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966620.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3705+1865T>G",
"hgvs_p": null,
"transcript": "ENST00000966623.1",
"protein_id": "ENSP00000636682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": null,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966623.1"
},
{
"aa_ref": null,
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"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.259-1956T>G",
"hgvs_p": null,
"transcript": "ENST00000966621.1",
"protein_id": "ENSP00000636680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
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"cds_length": 672,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966621.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3888+1865T>G",
"hgvs_p": null,
"transcript": "XM_017027192.2",
"protein_id": "XP_016882681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1433,
"cds_start": null,
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"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027192.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3888+1865T>G",
"hgvs_p": null,
"transcript": "XM_017027193.2",
"protein_id": "XP_016882682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1433,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027193.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3888+1865T>G",
"hgvs_p": null,
"transcript": "XM_017027194.2",
"protein_id": "XP_016882683.1",
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"biotype": "protein_coding",
"feature": "XM_017027194.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.3885+1865T>G",
"hgvs_p": null,
"transcript": "XM_011528233.3",
"protein_id": "XP_011526535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1432,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528233.3"
}
],
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"dbsnp": "rs11673616",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.562,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001393888.1",
"gene_symbol": "PLIN4",
"hgnc_id": 29393,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3705+1865T>G",
"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
}