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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: 2-174075472-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174075472&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174075472,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013341.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr",
"transcript": "NM_013341.5",
"protein_id": "NP_037473.3",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 396,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": "ENST00000284719.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013341.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr",
"transcript": "ENST00000284719.8",
"protein_id": "ENSP00000284719.3",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 396,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": "NM_013341.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284719.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Leu262Leu",
"transcript": "ENST00000428402.6",
"protein_id": "ENSP00000410385.2",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 278,
"cds_start": 784,
"cds_end": null,
"cds_length": 837,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428402.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1205T>C",
"hgvs_p": "p.Ile402Thr",
"transcript": "ENST00000409546.5",
"protein_id": "ENSP00000386350.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 416,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409546.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr",
"transcript": "ENST00000882908.1",
"protein_id": "ENSP00000552967.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 396,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882908.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr",
"transcript": "ENST00000961742.1",
"protein_id": "ENSP00000631801.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 396,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961742.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr",
"transcript": "ENST00000961743.1",
"protein_id": "ENSP00000631802.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 396,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961743.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Ile361Thr",
"transcript": "NM_001328688.2",
"protein_id": "NP_001315617.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 375,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328688.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1082T>C",
"hgvs_p": "p.Ile361Thr",
"transcript": "ENST00000882906.1",
"protein_id": "ENSP00000552965.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 375,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882906.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Ile355Thr",
"transcript": "ENST00000939499.1",
"protein_id": "ENSP00000609558.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 369,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939499.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.1022T>C",
"hgvs_p": "p.Ile341Thr",
"transcript": "ENST00000882907.1",
"protein_id": "ENSP00000552966.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 355,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882907.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "NM_001011708.3",
"protein_id": "NP_001011708.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 238,
"cds_start": 671,
"cds_end": null,
"cds_length": 717,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011708.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Ile224Thr",
"transcript": "ENST00000344357.9",
"protein_id": "ENSP00000340167.5",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 238,
"cds_start": 671,
"cds_end": null,
"cds_length": 717,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344357.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "c.605T>C",
"hgvs_p": "p.Ile202Thr",
"transcript": "ENST00000939498.1",
"protein_id": "ENSP00000609557.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 216,
"cds_start": 605,
"cds_end": null,
"cds_length": 651,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "n.648T>C",
"hgvs_p": null,
"transcript": "ENST00000392560.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000392560.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"hgvs_c": "n.440T>C",
"hgvs_p": null,
"transcript": "ENST00000497760.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000497760.1"
}
],
"gene_symbol": "OLA1",
"gene_hgnc_id": 28833,
"dbsnp": "rs1684715182",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000137103,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9531044960021973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.667,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9534,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.288,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_013341.5",
"gene_symbol": "OLA1",
"hgnc_id": 28833,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Ile382Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}