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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: 1-28201321-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28201321&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAJC8",
"hgnc_id": 15470,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Thr230Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_014280.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2606,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2878861427307129,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 253,
"aa_ref": "T",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 720,
"cds_end": null,
"cds_length": 762,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_014280.3",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Thr230Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263697.6",
"protein_coding": true,
"protein_id": "NP_055095.2",
"strand": false,
"transcript": "NM_014280.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 253,
"aa_ref": "T",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 720,
"cds_end": null,
"cds_length": 762,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000263697.6",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Thr230Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014280.3",
"protein_coding": true,
"protein_id": "ENSP00000263697.4",
"strand": false,
"transcript": "ENST00000263697.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 87,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 838,
"cds_end": null,
"cds_length": 264,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000489277.6",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Thr64Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518780.1",
"strand": false,
"transcript": "ENST00000489277.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 197,
"aa_ref": "T",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 551,
"cds_end": null,
"cds_length": 594,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919817.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589876.1",
"strand": false,
"transcript": "ENST00000919817.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 183,
"aa_ref": "T",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 486,
"cds_end": null,
"cds_length": 552,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919819.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Thr160Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589878.1",
"strand": false,
"transcript": "ENST00000919819.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 119,
"aa_ref": "T",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 305,
"cds_end": null,
"cds_length": 360,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919818.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Thr96Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589877.1",
"strand": false,
"transcript": "ENST00000919818.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 107,
"aa_ref": "T",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 284,
"cds_end": null,
"cds_length": 324,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919816.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Thr84Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589875.1",
"strand": false,
"transcript": "ENST00000919816.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 106,
"aa_ref": "T",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1048,
"cdna_start": 282,
"cds_end": null,
"cds_length": 321,
"cds_start": 248,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919815.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589874.1",
"strand": false,
"transcript": "ENST00000919815.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 105,
"aa_ref": "T",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 482,
"cdna_start": 218,
"cds_end": null,
"cds_length": 318,
"cds_start": 218,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000603289.6",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474440.2",
"strand": false,
"transcript": "ENST00000603289.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_159454.1",
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"hgvs_c": "n.842C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_159454.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs769205621",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013685245,
"gene_hgnc_id": 15470,
"gene_symbol": "DNAJC8",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136852,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.743,
"pos": 28201321,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.086,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014280.3"
}
]
}