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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: 2-110658451-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110658451&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110658451,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004336.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "NM_004336.5",
"protein_id": "NP_004327.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1085,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "ENST00000302759.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004336.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000302759.11",
"protein_id": "ENSP00000302530.6",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 1085,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "NM_004336.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302759.11"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000409311.5",
"protein_id": "ENSP00000386701.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409311.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "n.1508C>A",
"hgvs_p": null,
"transcript": "ENST00000466333.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466333.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000922602.1",
"protein_id": "ENSP00000592661.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922602.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000902357.1",
"protein_id": "ENSP00000572416.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1090,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902357.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1490C>A",
"hgvs_p": "p.Ser497Tyr",
"transcript": "ENST00000922606.1",
"protein_id": "ENSP00000592665.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 1090,
"cds_start": 1490,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922606.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1454C>A",
"hgvs_p": "p.Ser485Tyr",
"transcript": "ENST00000922605.1",
"protein_id": "ENSP00000592664.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 1078,
"cds_start": 1454,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922605.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1415C>A",
"hgvs_p": "p.Ser472Tyr",
"transcript": "NM_001278616.2",
"protein_id": "NP_001265545.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1415,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278616.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1415C>A",
"hgvs_p": "p.Ser472Tyr",
"transcript": "ENST00000535254.6",
"protein_id": "ENSP00000441013.1",
"transcript_support_level": 2,
"aa_start": 472,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1415,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535254.6"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000922604.1",
"protein_id": "ENSP00000592663.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922604.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000922603.1",
"protein_id": "ENSP00000592662.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922603.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "ENST00000902358.1",
"protein_id": "ENSP00000572417.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902358.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "NM_001278617.2",
"protein_id": "NP_001265546.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1028,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278617.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr",
"transcript": "XM_047445616.1",
"protein_id": "XP_047301572.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 850,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445616.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289202",
"gene_hgnc_id": null,
"hgvs_c": "n.164-34068G>T",
"hgvs_p": null,
"transcript": "ENST00000722176.1",
"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": 431,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000722176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.*237C>A",
"hgvs_p": null,
"transcript": "ENST00000666956.1",
"protein_id": "ENSP00000499728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD132",
"gene_hgnc_id": 50413,
"hgvs_c": "n.-202C>A",
"hgvs_p": null,
"transcript": "NR_132975.1",
"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": 100,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_132975.1"
}
],
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"dbsnp": "rs121909055",
"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": 0.38702523708343506,
"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": 0.1109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.944,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004336.5",
"gene_symbol": "BUB1",
"hgnc_id": 1148,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1475C>A",
"hgvs_p": "p.Ser492Tyr"
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000722176.1",
"gene_symbol": "ENSG00000289202",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.164-34068G>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_132975.1",
"gene_symbol": "SNORD132",
"hgnc_id": 50413,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-202C>A",
"hgvs_p": null
}
],
"clinvar_disease": " somatic,Colorectal cancer with chromosomal instability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Colorectal cancer with chromosomal instability, somatic",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}