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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: 12-121857417-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121857417&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HPD",
"hgnc_id": 5147,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002150.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TIALD",
"hgnc_id": 56938,
"hgvs_c": "n.140+1025A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000750773.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.5729,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hawkinsinuria,Tyrosinemia type III",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8809665441513062,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1182,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002150.3",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000289004.8",
"protein_coding": true,
"protein_id": "NP_002141.2",
"strand": false,
"transcript": "NM_002150.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1182,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000289004.8",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002150.3",
"protein_coding": true,
"protein_id": "ENSP00000289004.4",
"strand": false,
"transcript": "ENST00000289004.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 440,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 147,
"cds_end": null,
"cds_length": 1323,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868949.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539008.1",
"strand": false,
"transcript": "ENST00000868949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1233,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868952.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539011.1",
"strand": false,
"transcript": "ENST00000868952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 407,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1224,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868956.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539015.1",
"strand": false,
"transcript": "ENST00000868956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 392,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 148,
"cds_end": null,
"cds_length": 1179,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868945.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539004.1",
"strand": false,
"transcript": "ENST00000868945.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 391,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 141,
"cds_end": null,
"cds_length": 1176,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868959.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539018.1",
"strand": false,
"transcript": "ENST00000868959.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 141,
"cds_end": null,
"cds_length": 1170,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868958.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539017.1",
"strand": false,
"transcript": "ENST00000868958.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 384,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1155,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868944.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539003.1",
"strand": false,
"transcript": "ENST00000868944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1152,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868954.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539013.1",
"strand": false,
"transcript": "ENST00000868954.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 377,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1134,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868953.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539012.1",
"strand": false,
"transcript": "ENST00000868953.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 148,
"cds_end": null,
"cds_length": 1092,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868947.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539006.1",
"strand": false,
"transcript": "ENST00000868947.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 354,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 147,
"cds_end": null,
"cds_length": 1065,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868950.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539009.1",
"strand": false,
"transcript": "ENST00000868950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 354,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": 141,
"cds_end": null,
"cds_length": 1065,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868960.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539019.1",
"strand": false,
"transcript": "ENST00000868960.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 148,
"cds_end": null,
"cds_length": 1059,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868948.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539007.1",
"strand": false,
"transcript": "ENST00000868948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 321,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 145,
"cds_end": null,
"cds_length": 966,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868957.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539016.1",
"strand": false,
"transcript": "ENST00000868957.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 254,
"aa_ref": "C",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 145,
"cds_end": null,
"cds_length": 765,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868951.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539010.1",
"strand": false,
"transcript": "ENST00000868951.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 213,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 873,
"cdna_start": 141,
"cds_end": null,
"cds_length": 642,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868961.1",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Cys37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539020.1",
"strand": false,
"transcript": "ENST00000868961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001171993.2",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.-9T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165464.1",
"strand": false,
"transcript": "NM_001171993.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000543163.5",
"gene_hgnc_id": 5147,
"gene_symbol": "HPD",
"hgvs_c": "c.-9T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441677.1",
"strand": false,
"transcript": "ENST00000543163.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 358,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": null,
"cds_end": null,
"cds_length": 1077,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
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