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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: 1-28201357-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28201357&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 28201357,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014280.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Asp",
"transcript": "NM_014280.3",
"protein_id": "NP_055095.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 253,
"cds_start": 653,
"cds_end": null,
"cds_length": 762,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": "ENST00000263697.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014280.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Asp",
"transcript": "ENST00000263697.6",
"protein_id": "ENSP00000263697.4",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 253,
"cds_start": 653,
"cds_end": null,
"cds_length": 762,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": "NM_014280.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263697.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000489277.6",
"protein_id": "ENSP00000518780.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 87,
"cds_start": 155,
"cds_end": null,
"cds_length": 264,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489277.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Gly162Asp",
"transcript": "ENST00000919817.1",
"protein_id": "ENSP00000589876.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 197,
"cds_start": 485,
"cds_end": null,
"cds_length": 594,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919817.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Gly148Asp",
"transcript": "ENST00000919819.1",
"protein_id": "ENSP00000589878.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 183,
"cds_start": 443,
"cds_end": null,
"cds_length": 552,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919819.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Gly84Asp",
"transcript": "ENST00000919818.1",
"protein_id": "ENSP00000589877.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 119,
"cds_start": 251,
"cds_end": null,
"cds_length": 360,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919818.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Gly72Asp",
"transcript": "ENST00000919816.1",
"protein_id": "ENSP00000589875.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 107,
"cds_start": 215,
"cds_end": null,
"cds_length": 324,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919816.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Gly71Asp",
"transcript": "ENST00000919815.1",
"protein_id": "ENSP00000589874.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 106,
"cds_start": 212,
"cds_end": null,
"cds_length": 321,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919815.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Gly61Asp",
"transcript": "ENST00000603289.6",
"protein_id": "ENSP00000474440.2",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 105,
"cds_start": 182,
"cds_end": null,
"cds_length": 318,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603289.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"hgvs_c": "n.806G>A",
"hgvs_p": null,
"transcript": "NR_159454.1",
"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": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159454.1"
}
],
"gene_symbol": "DNAJC8",
"gene_hgnc_id": 15470,
"dbsnp": null,
"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": 0.5993742942810059,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9617,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.557,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014280.3",
"gene_symbol": "DNAJC8",
"hgnc_id": 15470,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Asp"
}
],
"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
}