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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: 10-60166650-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=60166650&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 60166650,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000280772.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "NM_020987.5",
"protein_id": "NP_066267.2",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 4377,
"cds_start": 2555,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "ENST00000280772.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "ENST00000280772.7",
"protein_id": "ENSP00000280772.1",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 4377,
"cds_start": 2555,
"cds_end": null,
"cds_length": 13134,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 17019,
"mane_select": "NM_020987.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2537G>C",
"hgvs_p": "p.Arg846Pro",
"transcript": "ENST00000373827.6",
"protein_id": "ENSP00000362933.2",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 1861,
"cds_start": 2537,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Arg835Pro",
"transcript": "NM_001204404.2",
"protein_id": "NP_001191333.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 9584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Arg835Pro",
"transcript": "ENST00000503366.6",
"protein_id": "ENSP00000425236.1",
"transcript_support_level": 2,
"aa_start": 835,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2504,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 9584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro",
"transcript": "NM_001320874.2",
"protein_id": "NP_001307803.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1867,
"cds_start": 2555,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 9489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2537G>C",
"hgvs_p": "p.Arg846Pro",
"transcript": "NM_001204403.2",
"protein_id": "NP_001191332.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1861,
"cds_start": 2537,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 9343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.77G>C",
"hgvs_p": "p.Arg26Pro",
"transcript": "ENST00000474360.1",
"protein_id": "ENSP00000422657.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 114,
"cds_start": 77,
"cds_end": null,
"cds_length": 345,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.2575+174G>C",
"hgvs_p": null,
"transcript": "ENST00000467420.7",
"protein_id": "ENSP00000423968.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1792,
"cds_start": -4,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "c.52+174G>C",
"hgvs_p": null,
"transcript": "ENST00000460468.5",
"protein_id": "ENSP00000426690.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"hgvs_c": "n.*1183+174G>C",
"hgvs_p": null,
"transcript": "ENST00000622427.4",
"protein_id": "ENSP00000483244.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK3",
"gene_hgnc_id": 494,
"dbsnp": "rs190358169",
"frequency_reference_population": 0.0000034217187,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342172,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22529664635658264,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.3212,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.133,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000280772.7",
"gene_symbol": "ANK3",
"hgnc_id": 494,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2555G>C",
"hgvs_p": "p.Arg852Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}