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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: 12-103985623-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103985623&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103985623,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003211.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Val329Leu",
"transcript": "NM_003211.6",
"protein_id": "NP_003202.3",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 410,
"cds_start": 985,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392872.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003211.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Val329Leu",
"transcript": "ENST00000392872.8",
"protein_id": "ENSP00000376611.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 410,
"cds_start": 985,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003211.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392872.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Val325Leu",
"transcript": "ENST00000266775.13",
"protein_id": "ENSP00000266775.9",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 406,
"cds_start": 973,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266775.13"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "NM_001363612.2",
"protein_id": "NP_001350541.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 267,
"cds_start": 556,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363612.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "ENST00000544861.5",
"protein_id": "ENSP00000445899.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 267,
"cds_start": 556,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544861.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Val325Leu",
"transcript": "XM_047429486.1",
"protein_id": "XP_047285442.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 406,
"cds_start": 973,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429486.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_047429487.1",
"protein_id": "XP_047285443.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 267,
"cds_start": 556,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429487.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Val186Leu",
"transcript": "XM_047429488.1",
"protein_id": "XP_047285444.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 267,
"cds_start": 556,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429488.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "c.373G>C",
"hgvs_p": "p.Val125Leu",
"transcript": "XM_047429489.1",
"protein_id": "XP_047285445.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 206,
"cds_start": 373,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "n.*278G>C",
"hgvs_p": null,
"transcript": "ENST00000540956.1",
"protein_id": "ENSP00000445716.1",
"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": "ENST00000540956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "n.1062G>C",
"hgvs_p": null,
"transcript": "ENST00000542926.5",
"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": "retained_intron",
"feature": "ENST00000542926.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"hgvs_c": "n.*278G>C",
"hgvs_p": null,
"transcript": "ENST00000540956.1",
"protein_id": "ENSP00000445716.1",
"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": "ENST00000540956.1"
}
],
"gene_symbol": "TDG",
"gene_hgnc_id": 11700,
"dbsnp": "rs776490263",
"frequency_reference_population": 6.841658e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84166e-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": 0.28238776326179504,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.3657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.312,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003211.6",
"gene_symbol": "TDG",
"hgnc_id": 11700,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Val329Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}