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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: 16-3029689-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3029689&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BICDL2",
"hgnc_id": 33584,
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001103175.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369667.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000572449.6",
"protein_coding": true,
"protein_id": "NP_001356596.1",
"strand": false,
"transcript": "NM_001369667.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572449.6",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001369667.1",
"protein_coding": true,
"protein_id": "ENSP00000459043.1",
"strand": false,
"transcript": "ENST00000572449.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389347.4",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373998.4",
"strand": false,
"transcript": "ENST00000389347.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1626,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642419.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.911_912delGGinsAA",
"hgvs_p": "p.Arg304Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493502.1",
"strand": false,
"transcript": "ENST00000642419.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001103175.2",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096645.1",
"strand": false,
"transcript": "NM_001103175.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873753.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543812.1",
"strand": false,
"transcript": "ENST00000873753.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873755.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543814.1",
"strand": false,
"transcript": "ENST00000873755.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873757.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543816.1",
"strand": false,
"transcript": "ENST00000873757.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873758.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543817.1",
"strand": false,
"transcript": "ENST00000873758.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957825.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627884.1",
"strand": false,
"transcript": "ENST00000957825.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1515,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873754.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543813.1",
"strand": false,
"transcript": "ENST00000873754.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1515,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873756.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543815.1",
"strand": false,
"transcript": "ENST00000873756.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1515,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915135.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585194.1",
"strand": false,
"transcript": "ENST00000915135.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 906,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000573514.5",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.191_192delGGinsAA",
"hgvs_p": "p.Arg64Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461724.1",
"strand": false,
"transcript": "ENST00000573514.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1527,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005255135.5",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.812_813delGGinsAA",
"hgvs_p": "p.Arg271Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255192.1",
"strand": false,
"transcript": "XM_005255135.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 1332,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522391.3",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.617_618delGGinsAA",
"hgvs_p": "p.Arg206Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520693.1",
"strand": false,
"transcript": "XM_011522391.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957824.1",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "c.763-77_763-76delGGinsAA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627883.1",
"strand": false,
"transcript": "ENST00000957824.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000572240.5",
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"hgvs_c": "n.2063_2064delGGinsAA",
"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": "ENST00000572240.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 33584,
"gene_symbol": "BICDL2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Benign",
"phylop100way_score": 1.635,
"pos": 3029689,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001103175.2"
}
]
}