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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: 6-110438805-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110438805&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110438805,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368919.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr",
"transcript": "NM_033125.4",
"protein_id": "NP_149116.2",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 577,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": "ENST00000368919.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr",
"transcript": "ENST00000368919.8",
"protein_id": "ENSP00000357915.3",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 577,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": "NM_033125.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1124T>C",
"hgvs_p": "p.Met375Thr",
"transcript": "ENST00000330550.8",
"protein_id": "ENSP00000328583.4",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 543,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.977T>C",
"hgvs_p": "p.Met326Thr",
"transcript": "ENST00000451557.5",
"protein_id": "ENSP00000395642.1",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 432,
"cds_start": 977,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.716T>C",
"hgvs_p": "p.Met239Thr",
"transcript": "ENST00000434949.5",
"protein_id": "ENSP00000409306.1",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 266,
"cds_start": 716,
"cds_end": null,
"cds_length": 801,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Met366Thr",
"transcript": "XM_011536204.4",
"protein_id": "XP_011534506.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 534,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr",
"transcript": "XM_011536205.3",
"protein_id": "XP_011534507.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 515,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.944T>C",
"hgvs_p": "p.Met315Thr",
"transcript": "XM_011536206.3",
"protein_id": "XP_011534508.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 483,
"cds_start": 944,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Met291Thr",
"transcript": "XM_011536207.4",
"protein_id": "XP_011534509.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 459,
"cds_start": 872,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Met279Thr",
"transcript": "XM_011536208.4",
"protein_id": "XP_011534510.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 447,
"cds_start": 836,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Met274Thr",
"transcript": "XM_011536209.4",
"protein_id": "XP_011534511.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 442,
"cds_start": 821,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Met249Thr",
"transcript": "XM_011536211.3",
"protein_id": "XP_011534513.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 417,
"cds_start": 746,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Met249Thr",
"transcript": "XM_047419435.1",
"protein_id": "XP_047275391.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 355,
"cds_start": 746,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.536T>C",
"hgvs_p": "p.Met179Thr",
"transcript": "XM_011536212.3",
"protein_id": "XP_011534514.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 347,
"cds_start": 536,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1343,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.1184-2844T>C",
"hgvs_p": null,
"transcript": "XM_011536210.1",
"protein_id": "XP_011534512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"dbsnp": "rs12210538",
"frequency_reference_population": 0.20605198,
"hom_count_reference_population": 37919,
"allele_count_reference_population": 332490,
"gnomad_exomes_af": 0.211103,
"gnomad_genomes_af": 0.157569,
"gnomad_exomes_ac": 308501,
"gnomad_genomes_ac": 23989,
"gnomad_exomes_homalt": 35418,
"gnomad_genomes_homalt": 2501,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019080638885498047,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.351,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.407,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368919.8",
"gene_symbol": "SLC22A16",
"hgnc_id": 20302,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Met409Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}