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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: 13-59666587-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=59666587&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 59666587,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000400324.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3579A>G",
"hgvs_p": "p.Leu1193Leu",
"transcript": "NM_001042517.2",
"protein_id": "NP_001035982.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3741,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000400324.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3579A>G",
"hgvs_p": "p.Leu1193Leu",
"transcript": "ENST00000400324.9",
"protein_id": "ENSP00000383178.3",
"transcript_support_level": 1,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3741,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_001042517.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3546A>G",
"hgvs_p": "p.Leu1182Leu",
"transcript": "ENST00000377908.6",
"protein_id": "ENSP00000367141.2",
"transcript_support_level": 1,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3441A>G",
"hgvs_p": "p.Leu1147Leu",
"transcript": "ENST00000400320.5",
"protein_id": "ENSP00000383174.1",
"transcript_support_level": 1,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3369A>G",
"hgvs_p": "p.Leu1123Leu",
"transcript": "ENST00000400319.5",
"protein_id": "ENSP00000383173.1",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3546A>G",
"hgvs_p": "p.Leu1182Leu",
"transcript": "NM_001258366.2",
"protein_id": "NP_001245295.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3708,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3441A>G",
"hgvs_p": "p.Leu1147Leu",
"transcript": "NM_001258367.2",
"protein_id": "NP_001245296.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.3369A>G",
"hgvs_p": "p.Leu1123Leu",
"transcript": "NM_001258368.2",
"protein_id": "NP_001245297.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3531,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.2790A>G",
"hgvs_p": "p.Leu930Leu",
"transcript": "XM_006719876.1",
"protein_id": "XP_006719939.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 930,
"cds_start": 2790,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3953,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "ENST00000649952.1",
"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": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.*154A>G",
"hgvs_p": null,
"transcript": "ENST00000470420.1",
"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": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"dbsnp": "rs375648930",
"frequency_reference_population": 0.000057622317,
"hom_count_reference_population": 0,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000526768,
"gnomad_genomes_af": 0.000105115,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"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": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.017,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000400324.9",
"gene_symbol": "DIAPH3",
"hgnc_id": 15480,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3579A>G",
"hgvs_p": "p.Leu1193Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}