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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: 8-63064294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=63064294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 63064294,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000260116.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "NM_000370.3",
"protein_id": "NP_000361.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 278,
"cds_start": 575,
"cds_end": null,
"cds_length": 837,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": "ENST00000260116.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000260116.5",
"protein_id": "ENSP00000260116.4",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 278,
"cds_start": 575,
"cds_end": null,
"cds_length": 837,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": "NM_000370.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"transcript": "NM_001413418.1",
"protein_id": "NP_001400347.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 317,
"cds_start": 692,
"cds_end": null,
"cds_length": 954,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "NM_001413416.1",
"protein_id": "NP_001400345.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 282,
"cds_start": 575,
"cds_end": null,
"cds_length": 849,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "NM_001413414.1",
"protein_id": "NP_001400343.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 162,
"cds_start": 227,
"cds_end": null,
"cds_length": 489,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 3364,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.413G>A",
"hgvs_p": null,
"transcript": "NR_182149.1",
"protein_id": null,
"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": 3518,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.742G>A",
"hgvs_p": null,
"transcript": "NR_182150.1",
"protein_id": null,
"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": 3847,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.453G>A",
"hgvs_p": null,
"transcript": "NR_182151.1",
"protein_id": null,
"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": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.359-2869G>A",
"hgvs_p": null,
"transcript": "NM_001413415.1",
"protein_id": "NP_001400344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "c.205-2869G>A",
"hgvs_p": null,
"transcript": "NM_001413417.1",
"protein_id": "NP_001400346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"hgvs_c": "n.233-15691G>A",
"hgvs_p": null,
"transcript": "ENST00000521138.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTPA",
"gene_hgnc_id": 12404,
"dbsnp": "rs121917850",
"frequency_reference_population": 0.00008063666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.0000780685,
"gnomad_genomes_af": 0.000105323,
"gnomad_exomes_ac": 114,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8649921417236328,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3321,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.629,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000260116.5",
"gene_symbol": "TTPA",
"hgnc_id": 12404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His"
}
],
"clinvar_disease": " Friedreich-like, with isolated vitamin E deficiency,Ataxia,Familial isolated deficiency of vitamin E,TTPA-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:5 O:1",
"phenotype_combined": "Ataxia, Friedreich-like, with isolated vitamin E deficiency|Familial isolated deficiency of vitamin E|not provided|not specified|TTPA-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}