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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: 17-75891290-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75891290&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRIM65",
"hgnc_id": 27316,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_173547.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.0654,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01429334282875061,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1043,
"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.1043G>A",
"hgvs_p": "p.Arg348His",
"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": "H",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1043,
"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.1043G>A",
"hgvs_p": "p.Arg348His",
"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": "H",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1082,
"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.1082G>A",
"hgvs_p": "p.Arg361His",
"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": "H",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1016,
"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.1016G>A",
"hgvs_p": "p.Arg339His",
"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": "H",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1488,
"cds_start": 977,
"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.977G>A",
"hgvs_p": "p.Arg326His",
"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": "H",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1482,
"cds_start": 971,
"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.971G>A",
"hgvs_p": "p.Arg324His",
"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": "H",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1479,
"cds_start": 968,
"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.968G>A",
"hgvs_p": "p.Arg323His",
"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": "H",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1458,
"cds_start": 947,
"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.947G>A",
"hgvs_p": "p.Arg316His",
"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": "H",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1392,
"cds_start": 881,
"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.881G>A",
"hgvs_p": "p.Arg294His",
"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": "H",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1377,
"cds_start": 866,
"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.866G>A",
"hgvs_p": "p.Arg289His",
"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": "H",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 598,
"cds_end": null,
"cds_length": 863,
"cds_start": 596,
"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.596G>A",
"hgvs_p": "p.Arg199His",
"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": "H",
"aa_end": null,
"aa_length": 136,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 644,
"cdna_start": 336,
"cds_end": null,
"cds_length": 411,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591668.5",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 90,
"aa_ref": "R",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 396,
"cdna_start": 197,
"cds_end": null,
"cds_length": 273,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000592642.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1214,
"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.1214G>A",
"hgvs_p": "p.Arg405His",
"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": "H",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1175,
"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.1175G>A",
"hgvs_p": "p.Arg392His",
"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": "H",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1082,
"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.1082G>A",
"hgvs_p": "p.Arg361His",
"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": "H",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3357,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1016,
"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.1016G>A",
"hgvs_p": "p.Arg339His",
"intron_rank": null,
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"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": "H",
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"aa_length": 385,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011524499.3",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522801.1",
"strand": false,
"transcript": "XM_011524499.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 385,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011524500.3",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522802.1",
"strand": false,
"transcript": "XM_011524500.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047435583.1",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291539.1",
"strand": false,
"transcript": "XM_047435583.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011524501.3",
"gene_hgnc_id": 27316,
"gene_symbol": "TRIM65",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"intron_rank": null,
"intron_rank_end": null,
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