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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: 5-132392577-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132392577&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132392577,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000245407.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Arg471Pro",
"transcript": "NM_003060.4",
"protein_id": "NP_003051.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 557,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": "ENST00000245407.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Arg471Pro",
"transcript": "ENST00000245407.8",
"protein_id": "ENSP00000245407.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 557,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": "NM_003060.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "ENST00000435065.7",
"protein_id": "ENSP00000402760.2",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 581,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*264G>C",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"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": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*264G>C",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"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": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "NM_001308122.2",
"protein_id": "NP_001295051.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 581,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"transcript": "ENST00000693308.1",
"protein_id": "ENSP00000509770.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 573,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1394G>C",
"hgvs_p": "p.Arg465Pro",
"transcript": "ENST00000692413.1",
"protein_id": "ENSP00000509374.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 551,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1259G>C",
"hgvs_p": "p.Arg420Pro",
"transcript": "ENST00000689271.1",
"protein_id": "ENSP00000510797.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 506,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Arg418Pro",
"transcript": "ENST00000415928.6",
"protein_id": "ENSP00000388838.2",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 431,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Arg295Pro",
"transcript": "XM_017009778.3",
"protein_id": "XP_016865267.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 381,
"cds_start": 884,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Arg267Pro",
"transcript": "XM_047417596.1",
"protein_id": "XP_047273552.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 353,
"cds_start": 800,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 6596,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "XM_011543590.3",
"protein_id": "XP_011541892.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 351,
"cds_start": 794,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*144G>C",
"hgvs_p": null,
"transcript": "ENST00000447841.5",
"protein_id": "ENSP00000389284.1",
"transcript_support_level": 3,
"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": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.8834G>C",
"hgvs_p": null,
"transcript": "ENST00000461013.5",
"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": 10435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.2090G>C",
"hgvs_p": null,
"transcript": "ENST00000475308.1",
"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": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.515G>C",
"hgvs_p": null,
"transcript": "ENST00000479605.5",
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.1553G>C",
"hgvs_p": null,
"transcript": "ENST00000685543.1",
"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": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*576G>C",
"hgvs_p": null,
"transcript": "ENST00000686757.1",
"protein_id": "ENSP00000510721.1",
"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,
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"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.4097G>C",
"hgvs_p": null,
"transcript": "ENST00000687740.1",
"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": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.2722G>C",
"hgvs_p": null,
"transcript": "ENST00000688151.1",
"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": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*576G>C",
"hgvs_p": null,
"transcript": "ENST00000690900.1",
"protein_id": "ENSP00000510703.1",
"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": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.4552G>C",
"hgvs_p": null,
"transcript": "ENST00000692212.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"clinvar_disease": "Renal carnitine transport defect",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Renal carnitine transport defect",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}