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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: 16-14644480-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14644480&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14644480,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016561.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "NM_016561.3",
"protein_id": "NP_057645.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 450,
"cds_start": 134,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261658.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016561.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000261658.7",
"protein_id": "ENSP00000261658.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 450,
"cds_start": 134,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016561.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261658.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000911310.1",
"protein_id": "ENSP00000581369.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 475,
"cds_start": 134,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911310.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000901102.1",
"protein_id": "ENSP00000571161.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 450,
"cds_start": 134,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901102.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000911312.1",
"protein_id": "ENSP00000581371.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 450,
"cds_start": 134,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911312.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000911311.1",
"protein_id": "ENSP00000581370.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 441,
"cds_start": 134,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911311.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000901100.1",
"protein_id": "ENSP00000571159.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 423,
"cds_start": 134,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901100.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000901101.1",
"protein_id": "ENSP00000571160.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 376,
"cds_start": 134,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901101.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000901099.1",
"protein_id": "ENSP00000571158.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 370,
"cds_start": 134,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901099.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "NM_001330500.2",
"protein_id": "NP_001317429.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 325,
"cds_start": 134,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330500.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000563971.5",
"protein_id": "ENSP00000454476.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 325,
"cds_start": 134,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563971.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000911313.1",
"protein_id": "ENSP00000581372.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 271,
"cds_start": 134,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911313.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000562442.5",
"protein_id": "ENSP00000481225.1",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 213,
"cds_start": 134,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562442.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000570219.1",
"protein_id": "ENSP00000456358.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 108,
"cds_start": 134,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.-46C>T",
"hgvs_p": null,
"transcript": "XM_005255350.3",
"protein_id": "XP_005255407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255350.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "c.84+50C>T",
"hgvs_p": null,
"transcript": "ENST00000955228.1",
"protein_id": "ENSP00000625287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955228.1"
},
{
"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": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "n.283C>T",
"hgvs_p": null,
"transcript": "ENST00000562121.1",
"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": "ENST00000562121.1"
},
{
"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": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "n.134C>T",
"hgvs_p": null,
"transcript": "ENST00000563313.5",
"protein_id": "ENSP00000455428.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000563313.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"transcript": "ENST00000566520.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"hgvs_c": "n.134C>T",
"hgvs_p": null,
"transcript": "ENST00000566710.1",
"protein_id": "ENSP00000457561.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566710.1"
}
],
"gene_symbol": "BFAR",
"gene_hgnc_id": 17613,
"dbsnp": "rs1329630315",
"frequency_reference_population": 0.000003717463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": 0.00000657393,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5026281476020813,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.374,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.839,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.687,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016561.3",
"gene_symbol": "BFAR",
"hgnc_id": 17613,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile"
}
],
"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
}