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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: 13-95677333-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95677333&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95677333,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006260.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "NM_006260.5",
"protein_id": "NP_006251.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 504,
"cds_start": 78,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000602402.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006260.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000602402.6",
"protein_id": "ENSP00000473631.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 504,
"cds_start": 78,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006260.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602402.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000947240.1",
"protein_id": "ENSP00000617299.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 550,
"cds_start": 78,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947240.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000880232.1",
"protein_id": "ENSP00000550291.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 533,
"cds_start": 78,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880232.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000947242.1",
"protein_id": "ENSP00000617301.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 506,
"cds_start": 78,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947242.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000947243.1",
"protein_id": "ENSP00000617302.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947243.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000935418.1",
"protein_id": "ENSP00000605477.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 486,
"cds_start": 78,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935418.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000880233.1",
"protein_id": "ENSP00000550292.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 467,
"cds_start": 78,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880233.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000947241.1",
"protein_id": "ENSP00000617300.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 464,
"cds_start": 78,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947241.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "ENST00000376795.6",
"protein_id": "ENSP00000365991.6",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 453,
"cds_start": 78,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376795.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr",
"transcript": "XM_011521104.3",
"protein_id": "XP_011519406.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 533,
"cds_start": 78,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521104.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC3-DT",
"gene_hgnc_id": 39808,
"hgvs_c": "n.35G>A",
"hgvs_p": null,
"transcript": "ENST00000743095.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000743095.1"
}
],
"gene_symbol": "DNAJC3",
"gene_hgnc_id": 9439,
"dbsnp": "rs146543814",
"frequency_reference_population": 0.0033973556,
"hom_count_reference_population": 38,
"allele_count_reference_population": 5430,
"gnomad_exomes_af": 0.00350137,
"gnomad_genomes_af": 0.00240975,
"gnomad_exomes_ac": 5063,
"gnomad_genomes_ac": 367,
"gnomad_exomes_homalt": 36,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"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": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.834,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006260.5",
"gene_symbol": "DNAJC3",
"hgnc_id": 9439,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Tyr26Tyr"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000743095.1",
"gene_symbol": "DNAJC3-DT",
"hgnc_id": 39808,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.35G>A",
"hgvs_p": null
}
],
"clinvar_disease": "DNAJC3-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "DNAJC3-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}