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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: 18-50974459-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50974459&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50974459,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018696.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "NM_018696.3",
"protein_id": "NP_061166.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": "ENST00000269466.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018696.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000269466.8",
"protein_id": "ENSP00000269466.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": "NM_018696.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269466.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000591429.1",
"protein_id": "ENSP00000464770.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 223,
"cds_start": 55,
"cds_end": null,
"cds_length": 672,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267699",
"gene_hgnc_id": null,
"hgvs_c": "n.55C>T",
"hgvs_p": null,
"transcript": "ENST00000590722.2",
"protein_id": "ENSP00000465737.1",
"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": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590722.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858935.1",
"protein_id": "ENSP00000528994.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858935.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858936.1",
"protein_id": "ENSP00000528995.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858936.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858938.1",
"protein_id": "ENSP00000528997.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858938.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858939.1",
"protein_id": "ENSP00000528998.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858939.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000961942.1",
"protein_id": "ENSP00000632001.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961942.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000961943.1",
"protein_id": "ENSP00000632002.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961943.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000961944.1",
"protein_id": "ENSP00000632003.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 363,
"cds_start": 55,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961944.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858940.1",
"protein_id": "ENSP00000528999.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 352,
"cds_start": 55,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858940.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000917712.1",
"protein_id": "ENSP00000587771.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 225,
"cds_start": 55,
"cds_end": null,
"cds_length": 678,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917712.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858937.1",
"protein_id": "ENSP00000528996.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 207,
"cds_start": 55,
"cds_end": null,
"cds_length": 624,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858937.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000858941.1",
"protein_id": "ENSP00000529000.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 207,
"cds_start": 55,
"cds_end": null,
"cds_length": 624,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858941.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp",
"transcript": "ENST00000588577.5",
"protein_id": "ENSP00000467389.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 88,
"cds_start": 55,
"cds_end": null,
"cds_length": 267,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588577.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267699",
"gene_hgnc_id": null,
"hgvs_c": "n.155C>T",
"hgvs_p": null,
"transcript": "ENST00000588256.1",
"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": 526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000289868",
"gene_hgnc_id": null,
"hgvs_c": "n.215G>A",
"hgvs_p": null,
"transcript": "ENST00000797254.1",
"protein_id": null,
"transcript_support_level": null,
"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": 373,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000797254.1"
}
],
"gene_symbol": "ELAC1",
"gene_hgnc_id": 14197,
"dbsnp": "rs201522971",
"frequency_reference_population": 0.00016093077,
"hom_count_reference_population": 0,
"allele_count_reference_population": 257,
"gnomad_exomes_af": 0.000146053,
"gnomad_genomes_af": 0.000302079,
"gnomad_exomes_ac": 211,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7619495987892151,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.157,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018696.3",
"gene_symbol": "ELAC1",
"hgnc_id": 14197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55C>T",
"hgvs_p": "p.Arg19Trp"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000590722.2",
"gene_symbol": "ENSG00000267699",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.55C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000797254.1",
"gene_symbol": "ENSG00000289868",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.215G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}