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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: 19-4504577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4504577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLIN4",
"hgnc_id": 29393,
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001393888.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 43,
"alphamissense_prediction": null,
"alphamissense_score": 0.2411,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "19",
"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": 0.24761876463890076,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6502,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367868.2",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301286.5",
"protein_coding": true,
"protein_id": "NP_001354797.1",
"strand": false,
"transcript": "NM_001367868.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6502,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000301286.5",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367868.2",
"protein_coding": true,
"protein_id": "ENSP00000301286.4",
"strand": false,
"transcript": "ENST00000301286.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "S",
"aa_start": 1395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6618,
"cdna_start": 4240,
"cds_end": null,
"cds_length": 4302,
"cds_start": 4184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966625.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4184G>A",
"hgvs_p": "p.Ser1395Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636684.1",
"strand": false,
"transcript": "ENST00000966625.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "S",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6656,
"cdna_start": 4277,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4181,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966622.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4181G>A",
"hgvs_p": "p.Ser1394Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636681.1",
"strand": false,
"transcript": "ENST00000966622.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 4119,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393888.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380817.1",
"strand": false,
"transcript": "NM_001393888.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6452,
"cdna_start": 4067,
"cds_end": null,
"cds_length": 4119,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393889.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380818.1",
"strand": false,
"transcript": "NM_001393889.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6484,
"cdna_start": 4099,
"cds_end": null,
"cds_length": 4119,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000633942.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488481.1",
"strand": false,
"transcript": "ENST00000633942.1",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6472,
"cdna_start": 4077,
"cds_end": null,
"cds_length": 4119,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901551.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571610.1",
"strand": false,
"transcript": "ENST00000901551.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6450,
"cdna_start": 4072,
"cds_end": null,
"cds_length": 4119,
"cds_start": 4001,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966624.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4001G>A",
"hgvs_p": "p.Ser1334Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636683.1",
"strand": false,
"transcript": "ENST00000966624.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6449,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393890.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380819.1",
"strand": false,
"transcript": "NM_001393890.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6484,
"cdna_start": 4099,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393891.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380820.1",
"strand": false,
"transcript": "NM_001393891.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": 4092,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901550.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571609.1",
"strand": false,
"transcript": "ENST00000901550.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 1371,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8490,
"cdna_start": 6105,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966619.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636678.1",
"strand": false,
"transcript": "ENST00000966619.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6499,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966620.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636679.1",
"strand": false,
"transcript": "ENST00000966620.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6467,
"cdna_start": 4088,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3998,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966623.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Ser1333Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636682.1",
"strand": false,
"transcript": "ENST00000966623.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 223,
"aa_ref": "S",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 650,
"cds_end": null,
"cds_length": 672,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966621.1",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Ser185Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636680.1",
"strand": false,
"transcript": "ENST00000966621.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "S",
"aa_start": 1395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6688,
"cdna_start": 4303,
"cds_end": null,
"cds_length": 4302,
"cds_start": 4184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017027192.2",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4184G>A",
"hgvs_p": "p.Ser1395Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882681.1",
"strand": false,
"transcript": "XM_017027192.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 1433,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6635,
"cdna_start": 4250,
"cds_end": null,
"cds_length": 4302,
"cds_start": 4184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017027193.2",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4184G>A",
"hgvs_p": "p.Ser1395Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882682.1",
"strand": false,
"transcript": "XM_017027193.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "S",
"aa_start": 1395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6670,
"cdna_start": 4285,
"cds_end": null,
"cds_length": 4302,
"cds_start": 4184,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017027194.2",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4184G>A",
"hgvs_p": "p.Ser1395Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882683.1",
"strand": false,
"transcript": "XM_017027194.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "S",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6685,
"cdna_start": 4300,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4181,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011528233.3",
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"hgvs_c": "c.4181G>A",
"hgvs_p": "p.Ser1394Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526535.1",
"strand": false,
"transcript": "XM_011528233.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780402327",
"effect": "missense_variant",
"frequency_reference_population": 0.000026853282,
"gene_hgnc_id": 29393,
"gene_symbol": "PLIN4",
"gnomad_exomes_ac": 38,
"gnomad_exomes_af": 0.0000262239,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328437,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.936,
"pos": 4504577,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.134,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001393888.1"
}
]
}