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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: 17-75891246-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75891246&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRIM65",
"hgnc_id": 27316,
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Gly363Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_173547.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1146,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06414899230003357,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_173547.4",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Gly363Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269383.8",
"protein_coding": true,
"protein_id": "NP_775818.2",
"strand": false,
"transcript": "NM_173547.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000269383.8",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1087G>C",
"hgvs_p": "p.Gly363Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173547.4",
"protein_coding": true,
"protein_id": "ENSP00000269383.3",
"strand": false,
"transcript": "ENST00000269383.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000924710.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594769.1",
"strand": false,
"transcript": "ENST00000924710.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "G",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924711.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1060G>C",
"hgvs_p": "p.Gly354Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594770.1",
"strand": false,
"transcript": "ENST00000924711.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256124.2",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Gly341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243053.1",
"strand": false,
"transcript": "NM_001256124.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 493,
"aa_ref": "G",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000924712.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Gly339Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594771.1",
"strand": false,
"transcript": "ENST00000924712.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 492,
"aa_ref": "G",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946122.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1012G>C",
"hgvs_p": "p.Gly338Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616181.1",
"strand": false,
"transcript": "ENST00000946122.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 1458,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909232.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.991G>C",
"hgvs_p": "p.Gly331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579291.1",
"strand": false,
"transcript": "ENST00000909232.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1392,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946121.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Gly309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616180.1",
"strand": false,
"transcript": "ENST00000946121.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 458,
"aa_ref": "G",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1377,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946120.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Gly304Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616179.1",
"strand": false,
"transcript": "ENST00000946120.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 286,
"aa_ref": "G",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 642,
"cds_end": null,
"cds_length": 863,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000543309.5",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.640G>C",
"hgvs_p": "p.Gly214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441480.1",
"strand": false,
"transcript": "ENST00000543309.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 574,
"aa_ref": "G",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047435580.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1258G>C",
"hgvs_p": "p.Gly420Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291536.1",
"strand": false,
"transcript": "XM_047435580.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047435581.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Gly407Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291537.1",
"strand": false,
"transcript": "XM_047435581.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006721760.4",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721823.1",
"strand": false,
"transcript": "XM_006721760.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "G",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3357,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006721761.4",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1060G>C",
"hgvs_p": "p.Gly354Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721824.1",
"strand": false,
"transcript": "XM_006721761.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": null,
"cds_end": null,
"cds_length": 732,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000540128.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.*87G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444607.1",
"strand": false,
"transcript": "ENST00000540128.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 798,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011524503.3",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.*87G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522805.1",
"strand": false,
"transcript": "XM_011524503.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 252,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": null,
"cds_end": null,
"cds_length": 759,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017024344.2",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.*87G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879833.1",
"strand": false,
"transcript": "XM_017024344.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 644,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591668.5",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.348+31G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465034.1",
"strand": false,
"transcript": "ENST00000591668.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 90,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 396,
"cdna_start": null,
"cds_end": null,
"cds_length": 273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592642.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.210+31G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466353.1",
"strand": false,
"transcript": "ENST00000592642.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524499.3",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1095+31G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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