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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: 3-69004378-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69004378&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "EOGT",
"hgnc_id": 28526,
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001278689.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9545,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Adams-Oliver syndrome 4",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9449940919876099,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001278689.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383701.8",
"protein_coding": true,
"protein_id": "NP_001265618.1",
"strand": false,
"transcript": "NM_001278689.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000383701.8",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278689.2",
"protein_coding": true,
"protein_id": "ENSP00000373206.3",
"strand": false,
"transcript": "ENST00000383701.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1332,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000295571.9",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295571.5",
"strand": false,
"transcript": "ENST00000295571.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894422.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564481.1",
"strand": false,
"transcript": "ENST00000894422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 520,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1563,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946371.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616430.1",
"strand": false,
"transcript": "ENST00000946371.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1332,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_173654.3",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775925.1",
"strand": false,
"transcript": "NM_173654.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1638,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011533599.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531901.1",
"strand": false,
"transcript": "XM_011533599.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1638,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011533600.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531902.1",
"strand": false,
"transcript": "XM_011533600.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1638,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011533602.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531904.1",
"strand": false,
"transcript": "XM_011533602.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1638,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448000.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303956.1",
"strand": false,
"transcript": "XM_047448000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1638,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448001.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303957.1",
"strand": false,
"transcript": "XM_047448001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1635,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011533603.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531905.1",
"strand": false,
"transcript": "XM_011533603.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1635,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017006204.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861693.1",
"strand": false,
"transcript": "XM_017006204.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1635,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448002.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303958.1",
"strand": false,
"transcript": "XM_047448002.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1635,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448003.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303959.1",
"strand": false,
"transcript": "XM_047448003.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4552,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1635,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448004.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303960.1",
"strand": false,
"transcript": "XM_047448004.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005264743.3",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264800.1",
"strand": false,
"transcript": "XM_005264743.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017006205.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861694.1",
"strand": false,
"transcript": "XM_017006205.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017006206.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861695.1",
"strand": false,
"transcript": "XM_017006206.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1584,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448005.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.620G>C",
"hgvs_p": "p.Trp207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303961.1",
"strand": false,
"transcript": "XM_047448005.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 207,
"biotype": "protein_coding",
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]
}