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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: 9-128908640-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128908640&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128908640,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000372600.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "NM_019594.4",
"protein_id": "NP_062540.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "ENST00000372600.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "ENST00000372600.9",
"protein_id": "ENSP00000361682.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": "NM_019594.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "ENST00000372599.7",
"protein_id": "ENSP00000361680.3",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "NM_001127244.2",
"protein_id": "NP_001120716.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "NM_001127245.2",
"protein_id": "NP_001120717.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 4227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "ENST00000259324.5",
"protein_id": "ENSP00000259324.5",
"transcript_support_level": 2,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_005252095.3",
"protein_id": "XP_005252152.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_005252096.5",
"protein_id": "XP_005252153.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_006717186.3",
"protein_id": "XP_006717249.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_011518863.2",
"protein_id": "XP_011517165.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_011518864.3",
"protein_id": "XP_011517166.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423595.1",
"protein_id": "XP_047279551.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423596.1",
"protein_id": "XP_047279552.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423597.1",
"protein_id": "XP_047279553.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423598.1",
"protein_id": "XP_047279554.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423599.1",
"protein_id": "XP_047279555.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423600.1",
"protein_id": "XP_047279556.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg",
"transcript": "XM_047423601.1",
"protein_id": "XP_047279557.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 810,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRRC8A",
"gene_hgnc_id": 19027,
"dbsnp": "rs3750319",
"frequency_reference_population": 0.6977664,
"hom_count_reference_population": 399639,
"allele_count_reference_population": 1125073,
"gnomad_exomes_af": 0.706578,
"gnomad_genomes_af": 0.613188,
"gnomad_exomes_ac": 1031785,
"gnomad_genomes_ac": 93288,
"gnomad_exomes_homalt": 368182,
"gnomad_genomes_homalt": 31457,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.394,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372600.9",
"gene_symbol": "LRRC8A",
"hgnc_id": 19027,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1476T>C",
"hgvs_p": "p.Arg492Arg"
}
],
"clinvar_disease": " autosomal dominant,Agammaglobulinemia 5,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Agammaglobulinemia 5, autosomal dominant|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}