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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: 13-59666622-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=59666622&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 59666622,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000400324.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3544G>A",
"hgvs_p": "p.Glu1182Lys",
"transcript": "NM_001042517.2",
"protein_id": "NP_001035982.1",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3544,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000400324.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3544G>A",
"hgvs_p": "p.Glu1182Lys",
"transcript": "ENST00000400324.9",
"protein_id": "ENSP00000383178.3",
"transcript_support_level": 1,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3544,
"cds_end": null,
"cds_length": 3582,
"cdna_start": 3706,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_001042517.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3511G>A",
"hgvs_p": "p.Glu1171Lys",
"transcript": "ENST00000377908.6",
"protein_id": "ENSP00000367141.2",
"transcript_support_level": 1,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3511,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3511,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3406G>A",
"hgvs_p": "p.Glu1136Lys",
"transcript": "ENST00000400320.5",
"protein_id": "ENSP00000383174.1",
"transcript_support_level": 1,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 3406,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3334G>A",
"hgvs_p": "p.Glu1112Lys",
"transcript": "ENST00000400319.5",
"protein_id": "ENSP00000383173.1",
"transcript_support_level": 1,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3511G>A",
"hgvs_p": "p.Glu1171Lys",
"transcript": "NM_001258366.2",
"protein_id": "NP_001245295.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3511,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3406G>A",
"hgvs_p": "p.Glu1136Lys",
"transcript": "NM_001258367.2",
"protein_id": "NP_001245296.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3334G>A",
"hgvs_p": "p.Glu1112Lys",
"transcript": "NM_001258368.2",
"protein_id": "NP_001245297.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2755G>A",
"hgvs_p": "p.Glu919Lys",
"transcript": "XM_006719876.1",
"protein_id": "XP_006719939.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 930,
"cds_start": 2755,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2914,
"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.408G>A",
"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.*119G>A",
"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": "rs202170474",
"frequency_reference_population": 0.000016108208,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000164178,
"gnomad_genomes_af": 0.0000131356,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23391106724739075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.475,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.091,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000400324.9",
"gene_symbol": "DIAPH3",
"hgnc_id": 15480,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3544G>A",
"hgvs_p": "p.Glu1182Lys"
}
],
"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
}