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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: 8-19948197-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19948197&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19948197,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000237.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "NM_000237.3",
"protein_id": "NP_000228.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 475,
"cds_start": 106,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650287.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000237.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000650287.1",
"protein_id": "ENSP00000497642.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 475,
"cds_start": 106,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000237.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650287.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000965928.1",
"protein_id": "ENSP00000635987.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 475,
"cds_start": 106,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965928.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000965929.1",
"protein_id": "ENSP00000635988.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 474,
"cds_start": 106,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965929.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000965931.1",
"protein_id": "ENSP00000635990.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 469,
"cds_start": 106,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965931.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000965930.1",
"protein_id": "ENSP00000635989.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 415,
"cds_start": 106,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965930.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000524029.5",
"protein_id": "ENSP00000428237.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 128,
"cds_start": 106,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524029.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000522701.5",
"protein_id": "ENSP00000428557.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 104,
"cds_start": 106,
"cds_end": null,
"cds_length": 317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522701.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.-123G>A",
"hgvs_p": null,
"transcript": "ENST00000520959.5",
"protein_id": "ENSP00000428496.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520959.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.89-7644G>A",
"hgvs_p": null,
"transcript": "ENST00000900196.1",
"protein_id": "ENSP00000570255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "c.88+8669G>A",
"hgvs_p": null,
"transcript": "ENST00000965932.1",
"protein_id": "ENSP00000635991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000519773.1",
"protein_id": "ENSP00000431028.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "n.291G>A",
"hgvs_p": null,
"transcript": "ENST00000521994.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000521994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "n.175G>A",
"hgvs_p": null,
"transcript": "ENST00000523696.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000519773.1",
"protein_id": "ENSP00000431028.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000519773.1"
}
],
"gene_symbol": "LPL",
"gene_hgnc_id": 6677,
"dbsnp": "rs1801177",
"frequency_reference_population": 0.016615381,
"hom_count_reference_population": 327,
"allele_count_reference_population": 26815,
"gnomad_exomes_af": 0.0160357,
"gnomad_genomes_af": 0.0221874,
"gnomad_exomes_ac": 23441,
"gnomad_genomes_ac": 3374,
"gnomad_exomes_homalt": 266,
"gnomad_genomes_homalt": 61,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007787436246871948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.476,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000237.3",
"gene_symbol": "LPL",
"hgnc_id": 6677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn"
}
],
"clinvar_disease": " LPL related, familial combined, susceptibility to, type I,Cardiovascular phenotype,Coronary heart disease,Hyperlipidemia,Hyperlipoproteinemia,LPL-related disorder,not provided,not specified",
"clinvar_classification": " other,Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:7 O:1",
"phenotype_combined": "Hyperlipidemia, familial combined, susceptibility to|Coronary heart disease|not specified|Hyperlipoproteinemia, type I|not provided|Cardiovascular phenotype|Hyperlipoproteinemia, type I;Hyperlipidemia, familial combined, LPL related|LPL-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign; other",
"custom_annotations": null
}
],
"message": null
}