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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: 5-1463773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1463773&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1463773,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_024830.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Gln495*",
"transcript": "NM_024830.5",
"protein_id": "NP_079106.3",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 534,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283415.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024830.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Gln495*",
"transcript": "ENST00000283415.4",
"protein_id": "ENSP00000283415.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 534,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024830.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283415.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Gln527*",
"transcript": "ENST00000934191.1",
"protein_id": "ENSP00000604250.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 566,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934191.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1570C>T",
"hgvs_p": "p.Gln524*",
"transcript": "ENST00000934189.1",
"protein_id": "ENSP00000604248.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 563,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934189.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Gln499*",
"transcript": "ENST00000934190.1",
"protein_id": "ENSP00000604249.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 538,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934190.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "ENST00000879554.1",
"protein_id": "ENSP00000549613.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 501,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879554.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Gln453*",
"transcript": "ENST00000968003.1",
"protein_id": "ENSP00000638062.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 492,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968003.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"transcript": "ENST00000968004.1",
"protein_id": "ENSP00000638063.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 476,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968004.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Gln576*",
"transcript": "XM_011514132.2",
"protein_id": "XP_011512434.2",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 615,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514132.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Gln454*",
"transcript": "XM_011514134.2",
"protein_id": "XP_011512436.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 493,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514134.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "XM_005248373.4",
"protein_id": "XP_005248430.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 486,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248373.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "XM_047417763.1",
"protein_id": "XP_047273719.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 486,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "n.1483C>T",
"hgvs_p": null,
"transcript": "ENST00000475622.6",
"protein_id": "ENSP00000423472.1",
"transcript_support_level": 5,
"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": "ENST00000475622.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "LPCAT1",
"gene_hgnc_id": 25718,
"hgvs_c": "n.350C>T",
"hgvs_p": null,
"transcript": "ENST00000503252.1",
"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": "pseudogene",
"feature": "ENST00000503252.1"
}
],
"gene_symbol": "LPCAT1",
"gene_hgnc_id": 25718,
"dbsnp": "rs1340442862",
"frequency_reference_population": 0.0000065684894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656849,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27000001072883606,
"computational_prediction_selected": "Pathogenic",
"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": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.388,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024830.5",
"gene_symbol": "LPCAT1",
"hgnc_id": 25718,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Gln495*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}