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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: 12-124786428-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124786428&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 124786428,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005505.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "NM_005505.5",
"protein_id": "NP_005496.4",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 509,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "ENST00000261693.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "ENST00000261693.11",
"protein_id": "ENSP00000261693.6",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 509,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "NM_005505.5",
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.1645G>C",
"hgvs_p": null,
"transcript": "ENST00000535005.5",
"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": 1845,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1317+13G>C",
"hgvs_p": null,
"transcript": "ENST00000546215.5",
"protein_id": "ENSP00000442862.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "NM_001367981.1",
"protein_id": "NP_001354910.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 552,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "ENST00000415380.6",
"protein_id": "ENSP00000414979.2",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 552,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Ala403Pro",
"transcript": "NM_001367982.1",
"protein_id": "NP_001354911.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 512,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1336G>C",
"hgvs_p": "p.Ala446Pro",
"transcript": "NM_001367983.1",
"protein_id": "NP_001354912.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 511,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "NM_001367989.1",
"protein_id": "NP_001354918.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 509,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "NM_001367984.1",
"protein_id": "NP_001354913.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 508,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "NM_001082959.2",
"protein_id": "NP_001076428.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 506,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "ENST00000339570.9",
"protein_id": "ENSP00000343795.4",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 506,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1306G>C",
"hgvs_p": "p.Ala436Pro",
"transcript": "NM_001367985.1",
"protein_id": "NP_001354914.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 501,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1168G>C",
"hgvs_p": "p.Ala390Pro",
"transcript": "ENST00000544327.1",
"protein_id": "ENSP00000444851.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 499,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1306G>C",
"hgvs_p": "p.Ala436Pro",
"transcript": "ENST00000680596.1",
"protein_id": "ENSP00000505605.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 498,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1132G>C",
"hgvs_p": "p.Ala378Pro",
"transcript": "NM_001367987.1",
"protein_id": "NP_001354916.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 440,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.1132G>C",
"hgvs_p": "p.Ala378Pro",
"transcript": "ENST00000680556.1",
"protein_id": "ENSP00000505757.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 440,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Ala310Pro",
"transcript": "NM_001367988.1",
"protein_id": "NP_001354917.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 375,
"cds_start": 928,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3003,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.1473G>C",
"hgvs_p": null,
"transcript": "ENST00000538291.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 5527,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.66G>C",
"hgvs_p": null,
"transcript": "ENST00000545305.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 851,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.*256G>C",
"hgvs_p": null,
"transcript": "ENST00000679605.1",
"protein_id": "ENSP00000505370.1",
"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": 2715,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.3054G>C",
"hgvs_p": null,
"transcript": "ENST00000679955.1",
"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": 3726,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB1",
"gene_hgnc_id": 1664,
"hgvs_c": "n.*278G>C",
"hgvs_p": null,
"transcript": "ENST00000680926.1",
"protein_id": "ENSP00000505571.1",
"transcript_support_level": null,
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"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}