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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: 6-46688255-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=46688255&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 46688255,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001010870.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Tyr43His",
"transcript": "NM_001010870.3",
"protein_id": "NP_001010870.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 2096,
"cds_start": 127,
"cds_end": null,
"cds_length": 6291,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 8967,
"mane_select": "ENST00000316081.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010870.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Tyr43His",
"transcript": "ENST00000316081.11",
"protein_id": "ENSP00000346065.5",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 2096,
"cds_start": 127,
"cds_end": null,
"cds_length": 6291,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 8967,
"mane_select": "NM_001010870.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316081.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Tyr43His",
"transcript": "NM_001168359.2",
"protein_id": "NP_001161831.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 2066,
"cds_start": 127,
"cds_end": null,
"cds_length": 6201,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 8877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168359.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Tyr43His",
"transcript": "ENST00000544460.5",
"protein_id": "ENSP00000443299.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 2066,
"cds_start": 127,
"cds_end": null,
"cds_length": 6201,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 8887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544460.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6-AS1",
"gene_hgnc_id": 56119,
"hgvs_c": "n.41A>G",
"hgvs_p": null,
"transcript": "ENST00000434329.3",
"protein_id": null,
"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": 515,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000434329.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"hgvs_c": "n.1372+6616T>C",
"hgvs_p": null,
"transcript": "NR_144468.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD6-AS1",
"gene_hgnc_id": 56119,
"hgvs_c": "n.-90A>G",
"hgvs_p": null,
"transcript": "NR_134643.1",
"protein_id": null,
"transcript_support_level": null,
"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": 374,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134643.1"
}
],
"gene_symbol": "TDRD6",
"gene_hgnc_id": 21339,
"dbsnp": "rs1327334117",
"frequency_reference_population": 7.35584e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.35584e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8045605421066284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.9617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.89,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010870.3",
"gene_symbol": "TDRD6",
"hgnc_id": 21339,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.127T>C",
"hgvs_p": "p.Tyr43His"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434329.3",
"gene_symbol": "TDRD6-AS1",
"hgnc_id": 56119,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.41A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}