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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: 1-119750816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119750816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119750816,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005518.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "NM_005518.4",
"protein_id": "NP_005509.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369406.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005518.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000369406.8",
"protein_id": "ENSP00000358414.3",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005518.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369406.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Arg514Gly",
"transcript": "ENST00000886233.1",
"protein_id": "ENSP00000556292.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 517,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886233.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886228.1",
"protein_id": "ENSP00000556287.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886228.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886229.1",
"protein_id": "ENSP00000556288.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886229.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886230.1",
"protein_id": "ENSP00000556289.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886230.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886231.1",
"protein_id": "ENSP00000556290.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886231.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886234.1",
"protein_id": "ENSP00000556293.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886234.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886236.1",
"protein_id": "ENSP00000556295.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886236.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886238.1",
"protein_id": "ENSP00000556297.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886238.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886239.1",
"protein_id": "ENSP00000556298.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886239.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886241.1",
"protein_id": "ENSP00000556300.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886241.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "ENST00000886242.1",
"protein_id": "ENSP00000556301.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 508,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886242.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Arg497Gly",
"transcript": "ENST00000886240.1",
"protein_id": "ENSP00000556299.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 500,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886240.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1483C>G",
"hgvs_p": "p.Arg495Gly",
"transcript": "ENST00000886244.1",
"protein_id": "ENSP00000556303.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 498,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886244.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1435C>G",
"hgvs_p": "p.Arg479Gly",
"transcript": "ENST00000886243.1",
"protein_id": "ENSP00000556302.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 482,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886243.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Arg463Gly",
"transcript": "NM_001166107.1",
"protein_id": "NP_001159579.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 466,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166107.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Arg463Gly",
"transcript": "ENST00000544913.2",
"protein_id": "ENSP00000439495.2",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 466,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544913.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1342C>G",
"hgvs_p": "p.Arg448Gly",
"transcript": "ENST00000886237.1",
"protein_id": "ENSP00000556296.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 451,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886237.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.1222C>G",
"hgvs_p": "p.Arg408Gly",
"transcript": "ENST00000886232.1",
"protein_id": "ENSP00000556291.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 411,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886232.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.Arg302Gly",
"transcript": "ENST00000886245.1",
"protein_id": "ENSP00000556304.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 305,
"cds_start": 904,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886245.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.778C>G",
"hgvs_p": "p.Arg260Gly",
"transcript": "ENST00000886235.1",
"protein_id": "ENSP00000556294.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 263,
"cds_start": 778,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886235.1"
}
],
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"dbsnp": "rs780044819",
"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": 0.847817063331604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.668,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.707,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005518.4",
"gene_symbol": "HMGCS2",
"hgnc_id": 5008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}