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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: 4-168903905-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168903905&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168903905,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000505667.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2621A>C",
"hgvs_p": "p.Gln874Pro",
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2621,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2621A>C",
"hgvs_p": "p.Gln874Pro",
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2621,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": 857,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Gln370Pro",
"transcript": "ENST00000507735.6",
"protein_id": "ENSP00000424016.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 672,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "n.887A>C",
"hgvs_p": null,
"transcript": "ENST00000507699.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1424A>C",
"hgvs_p": "p.Gln475Pro",
"transcript": "NM_001166109.2",
"protein_id": "NP_001159581.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 777,
"cds_start": 1424,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1424A>C",
"hgvs_p": "p.Gln475Pro",
"transcript": "ENST00000512127.5",
"protein_id": "ENSP00000426947.1",
"transcript_support_level": 2,
"aa_start": 475,
"aa_end": null,
"aa_length": 777,
"cds_start": 1424,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Gln370Pro",
"transcript": "NM_001166110.2",
"protein_id": "NP_001159582.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 672,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro",
"transcript": "NM_001367568.1",
"protein_id": "NP_001354497.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 469,
"cds_start": 500,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro",
"transcript": "ENST00000704822.1",
"protein_id": "ENSP00000516055.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 469,
"cds_start": 500,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.449A>C",
"hgvs_p": "p.Gln150Pro",
"transcript": "NM_001367569.1",
"protein_id": "NP_001354498.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 452,
"cds_start": 449,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Gln167Pro",
"transcript": "NM_001367570.1",
"protein_id": "NP_001354499.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 416,
"cds_start": 500,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.449A>C",
"hgvs_p": "p.Gln150Pro",
"transcript": "NM_001367567.1",
"protein_id": "NP_001354496.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 399,
"cds_start": 449,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.449A>C",
"hgvs_p": "p.Gln150Pro",
"transcript": "ENST00000393726.7",
"protein_id": "ENSP00000377327.3",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 163,
"cds_start": 449,
"cds_end": null,
"cds_length": 493,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3497A>C",
"hgvs_p": "p.Gln1166Pro",
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 3857,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3446A>C",
"hgvs_p": "p.Gln1149Pro",
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3446,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3497A>C",
"hgvs_p": "p.Gln1166Pro",
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 3857,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3446A>C",
"hgvs_p": "p.Gln1149Pro",
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3446,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3224A>C",
"hgvs_p": "p.Gln1075Pro",
"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3224,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3584,
"cdna_end": null,
"cdna_length": 6550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3125A>C",
"hgvs_p": "p.Gln1042Pro",
"transcript": "XM_011531772.3",
"protein_id": "XP_011530074.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3125,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Gln942Pro",
"transcript": "XM_011531773.2",
"protein_id": "XP_011530075.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2825,
"cds_end": null,
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{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000510042.5",
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*259-9140T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}