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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: 14-103102405-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103102405&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103102405,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001077594.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "NM_001077594.2",
"protein_id": "NP_001071062.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000688303.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077594.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000688303.1",
"protein_id": "ENSP00000509130.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077594.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688303.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000380069.7",
"protein_id": "ENSP00000369409.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380069.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "NM_001394941.1",
"protein_id": "NP_001381870.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394941.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "NM_001394942.1",
"protein_id": "NP_001381871.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394942.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000687959.1",
"protein_id": "ENSP00000508483.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687959.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865814.1",
"protein_id": "ENSP00000535873.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865814.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865815.1",
"protein_id": "ENSP00000535874.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865815.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865816.1",
"protein_id": "ENSP00000535875.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865816.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865817.1",
"protein_id": "ENSP00000535876.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865817.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865818.1",
"protein_id": "ENSP00000535877.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865818.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865819.1",
"protein_id": "ENSP00000535878.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865819.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865821.1",
"protein_id": "ENSP00000535880.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865821.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865822.1",
"protein_id": "ENSP00000535881.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865822.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865823.1",
"protein_id": "ENSP00000535882.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865823.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865824.1",
"protein_id": "ENSP00000535883.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865824.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000953216.1",
"protein_id": "ENSP00000623275.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953216.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000953218.1",
"protein_id": "ENSP00000623277.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953218.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000953219.1",
"protein_id": "ENSP00000623278.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 722,
"cds_start": 682,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953219.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000865820.1",
"protein_id": "ENSP00000535879.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 716,
"cds_start": 682,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865820.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000953217.1",
"protein_id": "ENSP00000623276.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 716,
"cds_start": 682,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953217.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L4",
"gene_hgnc_id": 20120,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Pro228Thr",
"transcript": "ENST00000953221.1",
"protein_id": "ENSP00000623280.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 716,
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{
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],
"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
}