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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: 17-8115623-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8115623&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8115623,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000448843.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "NM_021628.3",
"protein_id": "NP_067641.2",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 711,
"cds_start": 418,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": "ENST00000448843.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "ENST00000448843.7",
"protein_id": "ENSP00000400581.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 711,
"cds_start": 418,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": "NM_021628.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "ENST00000380149.6",
"protein_id": "ENSP00000369494.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 711,
"cds_start": 418,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272*",
"transcript": "NM_001165960.1",
"protein_id": "NP_001159432.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 843,
"cds_start": 814,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "ENST00000318227.4",
"protein_id": "ENSP00000314879.4",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 711,
"cds_start": 418,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "NM_001369446.1",
"protein_id": "NP_001356375.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 710,
"cds_start": 418,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "ENST00000714145.1",
"protein_id": "ENSP00000519434.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 671,
"cds_start": 418,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_017024921.3",
"protein_id": "XP_016880410.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 615,
"cds_start": 418,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_017024922.3",
"protein_id": "XP_016880411.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 563,
"cds_start": 418,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_047436510.1",
"protein_id": "XP_047292466.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 555,
"cds_start": 418,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_017024923.3",
"protein_id": "XP_016880412.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 539,
"cds_start": 418,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_017024924.3",
"protein_id": "XP_016880413.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 489,
"cds_start": 418,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_017024925.3",
"protein_id": "XP_016880414.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 489,
"cds_start": 418,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*",
"transcript": "XM_047436511.1",
"protein_id": "XP_047292467.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 489,
"cds_start": 418,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "n.919C>T",
"hgvs_p": null,
"transcript": "ENST00000714143.1",
"protein_id": "ENSP00000519432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"hgvs_c": "n.418C>T",
"hgvs_p": null,
"transcript": "ENST00000714144.1",
"protein_id": "ENSP00000519433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALOXE3",
"gene_hgnc_id": 13743,
"dbsnp": "rs370031870",
"frequency_reference_population": 0.000010534431,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102628,
"gnomad_genomes_af": 0.0000131439,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.296,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000448843.7",
"gene_symbol": "ALOXE3",
"hgnc_id": 13743,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140*"
}
],
"clinvar_disease": "Autosomal recessive congenital ichthyosis 3,Ichthyosis,Lamellar ichthyosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Autosomal recessive congenital ichthyosis 3|Ichthyosis|Lamellar ichthyosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}