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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: 20-35462425-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35462425&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35462425,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001318219.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "NM_007186.6",
"protein_id": "NP_009117.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397527.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007186.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000397527.6",
"protein_id": "ENSP00000380661.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007186.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397527.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000446710.5",
"protein_id": "ENSP00000398747.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 163,
"cds_start": 58,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446710.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.-1842C>T",
"hgvs_p": null,
"transcript": "NM_001318219.1",
"protein_id": "NP_001305148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1810,
"cds_start": null,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318219.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000706828.1",
"protein_id": "ENSP00000516576.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2499,
"cds_start": 58,
"cds_end": null,
"cds_length": 7500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706828.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000937927.1",
"protein_id": "ENSP00000607986.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2435,
"cds_start": 58,
"cds_end": null,
"cds_length": 7308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937927.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000706829.1",
"protein_id": "ENSP00000516577.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2415,
"cds_start": 58,
"cds_end": null,
"cds_length": 7248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706829.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000853588.1",
"protein_id": "ENSP00000523647.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2394,
"cds_start": 58,
"cds_end": null,
"cds_length": 7185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853588.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000706830.1",
"protein_id": "ENSP00000516578.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2332,
"cds_start": 58,
"cds_end": null,
"cds_length": 6999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706830.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000425934.5",
"protein_id": "ENSP00000413827.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 683,
"cds_start": 58,
"cds_end": null,
"cds_length": 2053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425934.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000397524.5",
"protein_id": "ENSP00000380658.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 339,
"cds_start": 58,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397524.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "ENST00000420564.5",
"protein_id": "ENSP00000414651.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 113,
"cds_start": 58,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420564.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_005260262.5",
"protein_id": "XP_005260319.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260262.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_006723690.5",
"protein_id": "XP_006723753.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723690.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_006723691.2",
"protein_id": "XP_006723754.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723691.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_006723692.5",
"protein_id": "XP_006723755.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723692.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_006723693.5",
"protein_id": "XP_006723756.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2442,
"cds_start": 58,
"cds_end": null,
"cds_length": 7329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723693.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_047439853.1",
"protein_id": "XP_047295809.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2404,
"cds_start": 58,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439853.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_047439854.1",
"protein_id": "XP_047295810.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2404,
"cds_start": 58,
"cds_end": null,
"cds_length": 7215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439854.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_005260263.5",
"protein_id": "XP_005260320.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2370,
"cds_start": 58,
"cds_end": null,
"cds_length": 7113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260263.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_047439855.1",
"protein_id": "XP_047295811.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2370,
"cds_start": 58,
"cds_end": null,
"cds_length": 7113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP250",
"gene_hgnc_id": 1859,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Leu",
"transcript": "XM_047439856.1",
"protein_id": "XP_047295812.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2370,
"cds_start": 58,
"cds_end": null,
"cds_length": 7113,
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}