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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: 3-186556476-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186556476&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186556476,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018138.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "NM_018138.5",
"protein_id": "NP_060608.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338733.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018138.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000338733.10",
"protein_id": "ENSP00000341652.5",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018138.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338733.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "NM_001134415.1",
"protein_id": "NP_001127887.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134415.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000424280.5",
"protein_id": "ENSP00000411253.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424280.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000894072.1",
"protein_id": "ENSP00000564131.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894072.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000933584.1",
"protein_id": "ENSP00000603643.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933584.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000971226.1",
"protein_id": "ENSP00000641285.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971226.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000971228.1",
"protein_id": "ENSP00000641287.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 557,
"cds_start": 792,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971228.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.504G>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "NM_001286749.2",
"protein_id": "NP_001273678.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 461,
"cds_start": 504,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286749.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.504G>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "ENST00000446782.5",
"protein_id": "ENSP00000397091.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 461,
"cds_start": 504,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446782.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000894071.1",
"protein_id": "ENSP00000564130.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 450,
"cds_start": 792,
"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": "ENST00000894071.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000933583.1",
"protein_id": "ENSP00000603642.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 391,
"cds_start": 792,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933583.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe",
"transcript": "ENST00000971227.1",
"protein_id": "ENSP00000641286.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 367,
"cds_start": 792,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971227.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.652+140G>T",
"hgvs_p": null,
"transcript": "ENST00000894070.1",
"protein_id": "ENSP00000564129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "ENST00000413695.1",
"protein_id": "ENSP00000391109.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413695.1"
}
],
"gene_symbol": "TBCCD1",
"gene_hgnc_id": 25546,
"dbsnp": "rs140031323",
"frequency_reference_population": 0.000013672222,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.00000892288,
"gnomad_genomes_af": 0.0000591428,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.797358512878418,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.679,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.558,
"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_018138.5",
"gene_symbol": "TBCCD1",
"hgnc_id": 25546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.792G>T",
"hgvs_p": "p.Leu264Phe"
}
],
"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
}