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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: 4-67625094-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=67625094&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 67625094,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018227.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Lys871Arg",
"transcript": "NM_018227.6",
"protein_id": "NP_060697.4",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 9540,
"mane_select": "ENST00000322244.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018227.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Lys871Arg",
"transcript": "ENST00000322244.10",
"protein_id": "ENSP00000313454.4",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 9540,
"mane_select": "NM_018227.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322244.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg",
"transcript": "ENST00000907530.1",
"protein_id": "ENSP00000577589.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907530.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2618A>G",
"hgvs_p": "p.Lys873Arg",
"transcript": "ENST00000907528.1",
"protein_id": "ENSP00000577587.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2618,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907528.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2603A>G",
"hgvs_p": "p.Lys868Arg",
"transcript": "ENST00000928865.1",
"protein_id": "ENSP00000598924.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928865.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Lys859Arg",
"transcript": "ENST00000928867.1",
"protein_id": "ENSP00000598926.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2576,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928867.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2549A>G",
"hgvs_p": "p.Lys850Arg",
"transcript": "ENST00000928866.1",
"protein_id": "ENSP00000598925.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2549,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928866.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2540A>G",
"hgvs_p": "p.Lys847Arg",
"transcript": "ENST00000907529.1",
"protein_id": "ENSP00000577588.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907529.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2540A>G",
"hgvs_p": "p.Lys847Arg",
"transcript": "ENST00000968080.1",
"protein_id": "ENSP00000638139.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968080.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2534A>G",
"hgvs_p": "p.Lys845Arg",
"transcript": "ENST00000907531.1",
"protein_id": "ENSP00000577590.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907531.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2468A>G",
"hgvs_p": "p.Lys823Arg",
"transcript": "ENST00000928864.1",
"protein_id": "ENSP00000598923.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2468,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 9383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928864.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Lys871Arg",
"transcript": "XM_017008359.3",
"protein_id": "XP_016863848.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008359.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "n.62A>G",
"hgvs_p": null,
"transcript": "ENST00000514261.1",
"protein_id": "ENSP00000425091.1",
"transcript_support_level": 5,
"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": 623,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514261.1"
}
],
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"dbsnp": "rs747866620",
"frequency_reference_population": 0.0000020529526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205295,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0658833384513855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.668,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018227.6",
"gene_symbol": "UBA6",
"hgnc_id": 25581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Lys871Arg"
}
],
"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
}