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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: 15-40199687-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40199687&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40199687,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001211.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001211.6",
"protein_id": "NP_001202.5",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287598.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001211.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "ENST00000287598.11",
"protein_id": "ENSP00000287598.7",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001211.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287598.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1403A>G",
"hgvs_p": "p.Lys468Arg",
"transcript": "ENST00000412359.7",
"protein_id": "ENSP00000398470.3",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1403,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412359.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Lys488Arg",
"transcript": "ENST00000918306.1",
"protein_id": "ENSP00000588365.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1463,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918306.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1379A>G",
"hgvs_p": "p.Lys460Arg",
"transcript": "ENST00000918309.1",
"protein_id": "ENSP00000588368.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1056,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918309.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "ENST00000897791.1",
"protein_id": "ENSP00000567850.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897791.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "ENST00000897792.1",
"protein_id": "ENSP00000567851.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1361,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897792.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1301A>G",
"hgvs_p": "p.Lys434Arg",
"transcript": "ENST00000918305.1",
"protein_id": "ENSP00000588364.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1301,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918305.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Lys320Arg",
"transcript": "ENST00000918310.1",
"protein_id": "ENSP00000588369.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 916,
"cds_start": 959,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918310.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Lys295Arg",
"transcript": "ENST00000918308.1",
"protein_id": "ENSP00000588367.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 891,
"cds_start": 884,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918308.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Lys272Arg",
"transcript": "ENST00000918307.1",
"protein_id": "ENSP00000588366.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 868,
"cds_start": 815,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "n.*274A>G",
"hgvs_p": null,
"transcript": "ENST00000559733.5",
"protein_id": "ENSP00000453643.1",
"transcript_support_level": 3,
"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": "ENST00000559733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "n.474A>G",
"hgvs_p": null,
"transcript": "ENST00000559772.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000559772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "n.*274A>G",
"hgvs_p": null,
"transcript": "ENST00000559733.5",
"protein_id": "ENSP00000453643.1",
"transcript_support_level": 3,
"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": "ENST00000559733.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984763",
"gene_hgnc_id": null,
"hgvs_c": "n.218-19486T>C",
"hgvs_p": null,
"transcript": "XR_001751506.2",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_001751506.2"
}
],
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"dbsnp": "rs373256667",
"frequency_reference_population": 0.00002788308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000273664,
"gnomad_genomes_af": 0.0000328437,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2549794316291809,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.252,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001211.6",
"gene_symbol": "BUB1B",
"hgnc_id": 1149,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001751506.2",
"gene_symbol": "LOC107984763",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.218-19486T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Carcinoma of colon,Colorectal cancer,Inborn genetic diseases,Mosaic variegated aneuploidy syndrome 1,Premature chromatid separation trait",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Premature chromatid separation trait;Mosaic variegated aneuploidy syndrome 1;Carcinoma of colon|Inborn genetic diseases|Mosaic variegated aneuploidy syndrome 1|Premature chromatid separation trait;Colorectal cancer;Mosaic variegated aneuploidy syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}