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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: 12-114366343-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=114366343&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 114366343,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000405440.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "NM_181486.4",
"protein_id": "NP_852259.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 518,
"cds_start": 804,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000405440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000405440.7",
"protein_id": "ENSP00000384152.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 518,
"cds_start": 804,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_181486.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000310346.8",
"protein_id": "ENSP00000309913.4",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 518,
"cds_start": 804,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Ala218Ala",
"transcript": "ENST00000349716.9",
"protein_id": "ENSP00000337723.5",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 468,
"cds_start": 654,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000526441.1",
"protein_id": "ENSP00000433292.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 349,
"cds_start": 804,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala",
"transcript": "NM_000192.3",
"protein_id": "NP_000183.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 518,
"cds_start": 804,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.654C>A",
"hgvs_p": "p.Ala218Ala",
"transcript": "NM_080717.4",
"protein_id": "NP_542448.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 468,
"cds_start": 654,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.852C>A",
"hgvs_p": "p.Ala284Ala",
"transcript": "XM_017019912.2",
"protein_id": "XP_016875401.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 534,
"cds_start": 852,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"dbsnp": "rs35110399",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.079,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000405440.7",
"gene_symbol": "TBX5",
"hgnc_id": 11604,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.804C>A",
"hgvs_p": "p.Ala268Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}