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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: 2-85848160-AC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85848160&ref=AC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ST3GAL5",
"hgnc_id": 10872,
"hgvs_c": "c.362_363delGTinsCA",
"hgvs_p": "p.Arg121Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003896.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "P",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 448,
"cds_end": null,
"cds_length": 1257,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003896.4",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.362_363delGTinsCA",
"hgvs_p": "p.Arg121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000638572.2",
"protein_coding": true,
"protein_id": "NP_003887.3",
"strand": false,
"transcript": "NM_003896.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 448,
"cds_end": null,
"cds_length": 1257,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638572.2",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.362_363delGTinsCA",
"hgvs_p": "p.Arg121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003896.4",
"protein_coding": true,
"protein_id": "ENSP00000491316.1",
"strand": false,
"transcript": "ENST00000638572.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1188,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393808.8",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.293_294delGTinsCA",
"hgvs_p": "p.Arg98Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377397.3",
"strand": false,
"transcript": "ENST00000393808.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 455,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393805.6",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377394.1",
"strand": false,
"transcript": "ENST00000393805.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461206.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "n.1416_1417delGTinsCA",
"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": "ENST00000461206.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640378.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "n.*526_*527delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492030.1",
"strand": false,
"transcript": "ENST00000640378.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640378.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "n.*526_*527delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492030.1",
"strand": false,
"transcript": "ENST00000640378.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1314,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640418.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.419_420delGTinsCA",
"hgvs_p": "p.Arg140Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492098.1",
"strand": false,
"transcript": "ENST00000640418.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 406,
"aa_ref": "R",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1221,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639305.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.359_360delGTinsCA",
"hgvs_p": "p.Arg120Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492244.1",
"strand": false,
"transcript": "ENST00000639305.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1188,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042437.2",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.293_294delGTinsCA",
"hgvs_p": "p.Arg98Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035902.1",
"strand": false,
"transcript": "NM_001042437.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354227.2",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341156.1",
"strand": false,
"transcript": "NM_001354227.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354229.2",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341158.1",
"strand": false,
"transcript": "NM_001354229.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354238.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341167.1",
"strand": false,
"transcript": "NM_001354238.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638986.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491853.1",
"strand": false,
"transcript": "ENST00000638986.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 455,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639432.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491828.1",
"strand": false,
"transcript": "ENST00000639432.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 480,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640322.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491564.1",
"strand": false,
"transcript": "ENST00000640322.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640982.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492299.1",
"strand": false,
"transcript": "ENST00000640982.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 450,
"cds_end": null,
"cds_length": 1173,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640992.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492753.1",
"strand": false,
"transcript": "ENST00000640992.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1098,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363847.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.362_363delGTinsCA",
"hgvs_p": "p.Arg121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350776.1",
"strand": false,
"transcript": "NM_001363847.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1098,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639119.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.362_363delGTinsCA",
"hgvs_p": "p.Arg121Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492045.1",
"strand": false,
"transcript": "ENST00000639119.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1014,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638178.1",
"gene_hgnc_id": 10872,
"gene_symbol": "ST3GAL5",
"hgvs_c": "c.278_279delGTinsCA",
"hgvs_p": "p.Arg93Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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