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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: 3-16219913-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=16219913&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GALNT15",
"hgnc_id": 21531,
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_054110.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 121200,
"alphamissense_prediction": null,
"alphamissense_score": 0.0711,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00205346941947937,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 639,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_054110.5",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339732.10",
"protein_coding": true,
"protein_id": "NP_473451.3",
"strand": true,
"transcript": "NM_054110.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 639,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000339732.10",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_054110.5",
"protein_coding": true,
"protein_id": "ENSP00000344260.5",
"strand": true,
"transcript": "ENST00000339732.10",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 617,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000437509.3",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395873.1",
"strand": true,
"transcript": "ENST00000437509.3",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 668,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3684,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961729.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631788.1",
"strand": true,
"transcript": "ENST00000961729.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 638,
"aa_ref": "H",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961725.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.His509Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631784.1",
"strand": true,
"transcript": "ENST00000961725.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 638,
"aa_ref": "H",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961726.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.His509Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631785.1",
"strand": true,
"transcript": "ENST00000961726.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 617,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001319051.2",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305980.1",
"strand": true,
"transcript": "NM_001319051.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 608,
"aa_ref": "H",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893520.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.His479Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563579.1",
"strand": true,
"transcript": "ENST00000893520.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 595,
"aa_ref": "H",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961728.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.His466Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631787.1",
"strand": true,
"transcript": "ENST00000961728.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 581,
"aa_ref": "H",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893523.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.His452Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563582.1",
"strand": true,
"transcript": "ENST00000893523.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 574,
"aa_ref": "H",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893521.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563580.1",
"strand": true,
"transcript": "ENST00000893521.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 515,
"aa_ref": "H",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893522.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563581.1",
"strand": true,
"transcript": "ENST00000893522.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 515,
"aa_ref": "H",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961727.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.His386Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631786.1",
"strand": true,
"transcript": "ENST00000961727.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 169,
"aa_ref": "H",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 268,
"cds_end": null,
"cds_length": 510,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001319052.2",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.His40Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305981.1",
"strand": true,
"transcript": "NM_001319052.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6466,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005264852.6",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.His510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264909.1",
"strand": true,
"transcript": "XM_005264852.6",
"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": 538,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000489467.1",
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489467.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2271077",
"effect": "missense_variant",
"frequency_reference_population": 0.07516139,
"gene_hgnc_id": 21531,
"gene_symbol": "GALNT15",
"gnomad_exomes_ac": 107403,
"gnomad_exomes_af": 0.073549,
"gnomad_exomes_homalt": 5861,
"gnomad_genomes_ac": 13797,
"gnomad_genomes_af": 0.0906278,
"gnomad_genomes_homalt": 791,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6652,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.45,
"pos": 16219913,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.026,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_054110.5"
}
]
}