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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: 8-33388986-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=33388986&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 33388986,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032664.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "NM_032664.3",
"protein_id": "NP_116053.3",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 479,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327671.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032664.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "ENST00000327671.10",
"protein_id": "ENSP00000332757.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 479,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032664.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327671.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000518672.5",
"protein_id": "ENSP00000430428.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 451,
"cds_start": 1105,
"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": "ENST00000518672.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "n.1533G>A",
"hgvs_p": null,
"transcript": "ENST00000520767.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000520767.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "ENST00000923867.1",
"protein_id": "ENSP00000593926.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 479,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923867.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000524021.1",
"protein_id": "ENSP00000429870.1",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 451,
"cds_start": 1105,
"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": "ENST00000524021.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Ala197Thr",
"transcript": "ENST00000923868.1",
"protein_id": "ENSP00000593927.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 279,
"cds_start": 589,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923868.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_011544676.4",
"protein_id": "XP_011542978.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544676.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "XM_011544677.4",
"protein_id": "XP_011542979.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 562,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544677.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "XM_047422325.1",
"protein_id": "XP_047278281.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 534,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422325.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_011544679.4",
"protein_id": "XP_011542981.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 523,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544679.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_011544680.4",
"protein_id": "XP_011542982.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 521,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544680.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_011544681.4",
"protein_id": "XP_011542983.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 504,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544681.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "XM_047422326.1",
"protein_id": "XP_047278282.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 481,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "n.265G>A",
"hgvs_p": null,
"transcript": "ENST00000517942.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000517942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT10",
"gene_hgnc_id": 19234,
"hgvs_c": "n.1198G>A",
"hgvs_p": null,
"transcript": "ENST00000518076.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518076.1"
}
],
"gene_symbol": "POFUT3",
"gene_hgnc_id": 19234,
"dbsnp": "rs140632284",
"frequency_reference_population": 0.0001313502,
"hom_count_reference_population": 0,
"allele_count_reference_population": 212,
"gnomad_exomes_af": 0.000131343,
"gnomad_genomes_af": 0.000131415,
"gnomad_exomes_ac": 192,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14939752221107483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.237,
"phylop100way_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032664.3",
"gene_symbol": "POFUT3",
"hgnc_id": 19234,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000327671.10",
"gene_symbol": "FUT10",
"hgnc_id": 19234,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr"
}
],
"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
}