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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: 17-75890807-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75890807&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75890807,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000269383.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Leu509Pro",
"transcript": "NM_173547.4",
"protein_id": "NP_775818.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 517,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": "ENST00000269383.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Leu509Pro",
"transcript": "ENST00000269383.8",
"protein_id": "ENSP00000269383.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 517,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": "NM_173547.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1460T>C",
"hgvs_p": "p.Leu487Pro",
"transcript": "NM_001256124.2",
"protein_id": "NP_001243053.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 495,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Leu566Pro",
"transcript": "XM_047435580.1",
"protein_id": "XP_047291536.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 574,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Pro",
"transcript": "XM_047435581.1",
"protein_id": "XP_047291537.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 561,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1565T>C",
"hgvs_p": "p.Leu522Pro",
"transcript": "XM_006721760.4",
"protein_id": "XP_006721823.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 530,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1499T>C",
"hgvs_p": "p.Leu500Pro",
"transcript": "XM_006721761.4",
"protein_id": "XP_006721824.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 508,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "n.1095T>C",
"hgvs_p": null,
"transcript": "ENST00000648382.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.*526T>C",
"hgvs_p": null,
"transcript": "XM_011524503.3",
"protein_id": "XP_011522805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.*526T>C",
"hgvs_p": null,
"transcript": "XM_017024344.2",
"protein_id": "XP_016879833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.348+470T>C",
"hgvs_p": null,
"transcript": "ENST00000591668.5",
"protein_id": "ENSP00000465034.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.210+470T>C",
"hgvs_p": null,
"transcript": "ENST00000592642.1",
"protein_id": "ENSP00000466353.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": -4,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1095+470T>C",
"hgvs_p": null,
"transcript": "XM_011524499.3",
"protein_id": "XP_011522801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1095+470T>C",
"hgvs_p": null,
"transcript": "XM_011524500.3",
"protein_id": "XP_011522802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1056+470T>C",
"hgvs_p": null,
"transcript": "XM_047435583.1",
"protein_id": "XP_047291539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1029+470T>C",
"hgvs_p": null,
"transcript": "XM_011524501.3",
"protein_id": "XP_011522803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
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"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.1029+470T>C",
"hgvs_p": null,
"transcript": "XM_011524502.3",
"protein_id": "XP_011522804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.990+470T>C",
"hgvs_p": null,
"transcript": "XM_047435584.1",
"protein_id": "XP_047291540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.990+470T>C",
"hgvs_p": null,
"transcript": "XM_047435585.1",
"protein_id": "XP_047291541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "n.868+470T>C",
"hgvs_p": null,
"transcript": "XR_934419.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"hgvs_c": "c.*216T>C",
"hgvs_p": null,
"transcript": "ENST00000543309.5",
"protein_id": "ENSP00000441480.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM65",
"gene_hgnc_id": 27316,
"dbsnp": "rs3760128",
"frequency_reference_population": 0.3569981,
"hom_count_reference_population": 105844,
"allele_count_reference_population": 535465,
"gnomad_exomes_af": 0.344692,
"gnomad_genomes_af": 0.466007,
"gnomad_exomes_ac": 464562,
"gnomad_genomes_ac": 70903,
"gnomad_exomes_homalt": 85216,
"gnomad_genomes_homalt": 20628,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 8.75341868322721e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0361,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.259,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000269383.8",
"gene_symbol": "TRIM65",
"hgnc_id": 27316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Leu509Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}