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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: 19-4511718-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4511718&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4511718,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001393888.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "NM_001367868.2",
"protein_id": "NP_001354797.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "ENST00000301286.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367868.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "ENST00000301286.5",
"protein_id": "ENSP00000301286.4",
"transcript_support_level": 5,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": "NM_001367868.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301286.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2428A>G",
"hgvs_p": "p.Ile810Val",
"transcript": "ENST00000966625.1",
"protein_id": "ENSP00000636684.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2428,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 6618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966625.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Ile809Val",
"transcript": "ENST00000966622.1",
"protein_id": "ENSP00000636681.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1432,
"cds_start": 2425,
"cds_end": null,
"cds_length": 4299,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 6656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966622.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "NM_001393888.1",
"protein_id": "NP_001380817.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2245,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393888.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "NM_001393889.1",
"protein_id": "NP_001380818.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2245,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393889.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "ENST00000633942.1",
"protein_id": "ENSP00000488481.1",
"transcript_support_level": 5,
"aa_start": 749,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2245,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633942.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "ENST00000901551.1",
"protein_id": "ENSP00000571610.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2245,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901551.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "ENST00000966624.1",
"protein_id": "ENSP00000636683.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2245,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966624.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "NM_001393890.1",
"protein_id": "NP_001380819.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393890.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "NM_001393891.1",
"protein_id": "NP_001380820.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 6484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393891.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "ENST00000901550.1",
"protein_id": "ENSP00000571609.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901550.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "ENST00000966619.1",
"protein_id": "ENSP00000636678.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4349,
"cdna_end": null,
"cdna_length": 8490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966619.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "ENST00000966620.1",
"protein_id": "ENSP00000636679.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2242,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966620.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val",
"transcript": "ENST00000966623.1",
"protein_id": "ENSP00000636682.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2245,
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"cdna_start": 2335,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966623.1"
},
{
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"aa_alt": "V",
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"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2428A>G",
"hgvs_p": "p.Ile810Val",
"transcript": "XM_017027192.2",
"protein_id": "XP_016882681.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2428,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 6688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027192.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2428A>G",
"hgvs_p": "p.Ile810Val",
"transcript": "XM_017027193.2",
"protein_id": "XP_016882682.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2428,
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"cds_length": 4302,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027193.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2428A>G",
"hgvs_p": "p.Ile810Val",
"transcript": "XM_017027194.2",
"protein_id": "XP_016882683.1",
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"aa_start": 810,
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"cdna_start": 2529,
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"biotype": "protein_coding",
"feature": "XM_017027194.2"
},
{
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"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": "PLIN4",
"gene_hgnc_id": 29393,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Ile809Val",
"transcript": "XM_011528233.3",
"protein_id": "XP_011526535.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1432,
"cds_start": 2425,
"cds_end": null,
"cds_length": 4299,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011528233.3"
},
{
"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.258+4899A>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,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966621.1"
}
],
"gene_symbol": "PLIN4",
"gene_hgnc_id": 29393,
"dbsnp": "rs62115190",
"frequency_reference_population": 0.83291584,
"hom_count_reference_population": 413760,
"allele_count_reference_population": 1028831,
"gnomad_exomes_af": 0.832916,
"gnomad_genomes_af": 0.698627,
"gnomad_exomes_ac": 1028831,
"gnomad_genomes_ac": 49249,
"gnomad_exomes_homalt": 413760,
"gnomad_genomes_homalt": 14130,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002490857468728791,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001393888.1",
"gene_symbol": "PLIN4",
"hgnc_id": 29393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Ile749Val"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}