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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: 16-5060315-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=5060315&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 5060315,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_152459.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "NM_001098514.3",
"protein_id": "NP_001091984.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 361,
"cds_start": 479,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000472572.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098514.3"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000472572.8",
"protein_id": "ENSP00000420566.2",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 361,
"cds_start": 479,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098514.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472572.8"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000474471.7",
"protein_id": "ENSP00000417158.3",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 434,
"cds_start": 479,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474471.7"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000315997.5",
"protein_id": "ENSP00000324672.5",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 402,
"cds_start": 479,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315997.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-125-12635delT",
"hgvs_p": null,
"transcript": "ENST00000588623.5",
"protein_id": "ENSP00000468118.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588623.5"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "NM_152459.5",
"protein_id": "NP_689672.4",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 402,
"cds_start": 479,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152459.5"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000857150.1",
"protein_id": "ENSP00000527209.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 393,
"cds_start": 479,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857150.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000946892.1",
"protein_id": "ENSP00000616951.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 338,
"cds_start": 479,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946892.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000857151.1",
"protein_id": "ENSP00000527210.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 332,
"cds_start": 479,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857151.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "ENST00000857152.1",
"protein_id": "ENSP00000527211.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 326,
"cds_start": 479,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857152.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "XM_017022972.2",
"protein_id": "XP_016878461.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 341,
"cds_start": 479,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022972.2"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "XM_017022974.2",
"protein_id": "XP_016878463.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 341,
"cds_start": 479,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022974.2"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs",
"transcript": "XM_005255143.4",
"protein_id": "XP_005255200.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 325,
"cds_start": 479,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255143.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-99-15072delT",
"hgvs_p": null,
"transcript": "ENST00000682985.1",
"protein_id": "ENSP00000507598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-99-15072delT",
"hgvs_p": null,
"transcript": "ENST00000682327.1",
"protein_id": "ENSP00000507058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-55-17129delT",
"hgvs_p": null,
"transcript": "ENST00000682020.1",
"protein_id": "ENSP00000508075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-55-17129delT",
"hgvs_p": null,
"transcript": "ENST00000683433.1",
"protein_id": "ENSP00000507463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683433.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "c.-49-1706delA",
"hgvs_p": null,
"transcript": "XM_011522392.3",
"protein_id": "XP_011520694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"hgvs_c": "n.490delA",
"hgvs_p": null,
"transcript": "ENST00000591875.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000591875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.-297-12635delT",
"hgvs_p": null,
"transcript": "ENST00000650085.1",
"protein_id": "ENSP00000507951.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650085.1"
}
],
"gene_symbol": "C16orf89",
"gene_hgnc_id": 28687,
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.3700000047683716,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.859,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.37,
"spliceai_max_prediction": "Uncertain_significance",
"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_152459.5",
"gene_symbol": "C16orf89",
"hgnc_id": 28687,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.479delA",
"hgvs_p": "p.Asp160fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588623.5",
"gene_symbol": "ALG1",
"hgnc_id": 18294,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-125-12635delT",
"hgvs_p": null
}
],
"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
}