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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: 4-168924974-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168924974&ref=G&alt=T&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": "PALLD",
"hgnc_id": 17068,
"hgvs_c": "c.3254G>T",
"hgvs_p": "p.Cys1085Phe",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001166108.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"hgvs_c": "n.*259-30209C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000510042.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.6314,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8581074476242065,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "C",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001166108.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3254G>T",
"hgvs_p": "p.Cys1085Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000505667.6",
"protein_coding": true,
"protein_id": "NP_001159580.1",
"strand": true,
"transcript": "NM_001166108.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "C",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000505667.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3254G>T",
"hgvs_p": "p.Cys1085Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001166108.2",
"protein_coding": true,
"protein_id": "ENSP00000425556.1",
"strand": true,
"transcript": "ENST00000505667.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "C",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 3414,
"cds_end": null,
"cds_length": 3321,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000261509.10",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3203G>T",
"hgvs_p": "p.Cys1068Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261509.6",
"strand": true,
"transcript": "ENST00000261509.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 672,
"aa_ref": "C",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000507735.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1742G>T",
"hgvs_p": "p.Cys581Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424016.1",
"strand": true,
"transcript": "ENST00000507735.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000507699.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "n.1520G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000507699.1",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "C",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5819,
"cdna_start": 3468,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000968439.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3254G>T",
"hgvs_p": "p.Cys1085Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638498.1",
"strand": true,
"transcript": "ENST00000968439.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "C",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 3442,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3248,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000871521.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3248G>T",
"hgvs_p": "p.Cys1083Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541580.1",
"strand": true,
"transcript": "ENST00000871521.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "C",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 3428,
"cds_end": null,
"cds_length": 3321,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_016081.4",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3203G>T",
"hgvs_p": "p.Cys1068Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057165.3",
"strand": true,
"transcript": "NM_016081.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 999,
"aa_ref": "C",
"aa_start": 961,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 3000,
"cds_start": 2882,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000871520.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2882G>T",
"hgvs_p": "p.Cys961Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541579.1",
"strand": true,
"transcript": "ENST00000871520.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001166109.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2057G>T",
"hgvs_p": "p.Cys686Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159581.1",
"strand": true,
"transcript": "NM_001166109.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 2579,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2057,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000512127.5",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2057G>T",
"hgvs_p": "p.Cys686Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426947.1",
"strand": true,
"transcript": "ENST00000512127.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 672,
"aa_ref": "C",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001166110.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1742G>T",
"hgvs_p": "p.Cys581Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159582.1",
"strand": true,
"transcript": "NM_001166110.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "C",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001367568.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Cys378Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354497.1",
"strand": true,
"transcript": "NM_001367568.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "C",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000704822.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Cys378Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516055.1",
"strand": true,
"transcript": "ENST00000704822.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 452,
"aa_ref": "C",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367569.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1082G>T",
"hgvs_p": "p.Cys361Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354498.1",
"strand": true,
"transcript": "NM_001367569.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 416,
"aa_ref": "C",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001367570.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1133G>T",
"hgvs_p": "p.Cys378Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354499.1",
"strand": true,
"transcript": "NM_001367570.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 399,
"aa_ref": "C",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367567.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1082G>T",
"hgvs_p": "p.Cys361Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354496.1",
"strand": true,
"transcript": "NM_001367567.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 159,
"aa_ref": "C",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 628,
"cdna_start": 363,
"cds_end": null,
"cds_length": 480,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000503290.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Cys121Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425729.1",
"strand": true,
"transcript": "ENST00000503290.1",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1468,
"aa_ref": "C",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 4407,
"cds_start": 4130,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011531768.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.4130G>T",
"hgvs_p": "p.Cys1377Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530070.1",
"strand": true,
"transcript": "XM_011531768.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "C",
"aa_start": 1360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6772,
"cdna_start": 4439,
"cds_end": null,
"cds_length": 4356,
"cds_start": 4079,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011531769.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.4079G>T",
"hgvs_p": "p.Cys1360Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530071.1",
"strand": true,
"transcript": "XM_011531769.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs771679229",
"effect": "missense_variant",
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"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
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"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
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"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
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"pos": 168924974,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.556,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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}
]
}