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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: 8-98951664-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=98951664&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 98951664,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286841.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "NM_001142462.3",
"protein_id": "NP_001135934.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": "ENST00000297565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142462.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000297565.9",
"protein_id": "ENSP00000297565.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": "NM_001142462.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297565.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Gly274Arg",
"transcript": "ENST00000435298.6",
"protein_id": "ENSP00000402862.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 276,
"cds_start": 820,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435298.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "NM_001286841.2",
"protein_id": "NP_001273770.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 433,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286841.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"transcript": "ENST00000457907.3",
"protein_id": "ENSP00000414657.2",
"transcript_support_level": 2,
"aa_start": 422,
"aa_end": null,
"aa_length": 433,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457907.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000522510.5",
"protein_id": "ENSP00000430780.1",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522510.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000874773.1",
"protein_id": "ENSP00000544832.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874773.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000874775.1",
"protein_id": "ENSP00000544837.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000951284.1",
"protein_id": "ENSP00000621343.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951284.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000951285.1",
"protein_id": "ENSP00000621344.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951285.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "ENST00000951286.1",
"protein_id": "ENSP00000621345.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951286.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Gly274Arg",
"transcript": "NM_053001.4",
"protein_id": "NP_443727.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 276,
"cds_start": 820,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053001.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Gly226Arg",
"transcript": "NM_001394683.1",
"protein_id": "NP_001381612.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 228,
"cds_start": 676,
"cds_end": null,
"cds_length": 687,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394683.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "XM_005250778.5",
"protein_id": "XP_005250835.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 397,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250778.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Arg358Pro",
"transcript": "XM_011516825.3",
"protein_id": "XP_011515127.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 369,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516825.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.1061G>C",
"hgvs_p": "p.Arg354Pro",
"transcript": "XM_011516826.2",
"protein_id": "XP_011515128.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 365,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516826.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Gly327Arg",
"transcript": "XM_047421326.1",
"protein_id": "XP_047277282.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 329,
"cds_start": 979,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421326.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "XM_011516827.3",
"protein_id": "XP_011515129.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516827.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"hgvs_c": "c.902G>C",
"hgvs_p": "p.Arg301Pro",
"transcript": "XM_047421327.1",
"protein_id": "XP_047277283.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 902,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421327.1"
}
],
"gene_symbol": "OSR2",
"gene_hgnc_id": 15830,
"dbsnp": "rs553096279",
"frequency_reference_population": 6.842229e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84223e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4045880436897278,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.499,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9986,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.82,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286841.2",
"gene_symbol": "OSR2",
"hgnc_id": 15830,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}