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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: 18-13116433-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=13116433&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 13116433,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032142.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7346G>A",
"hgvs_p": "p.Arg2449Gln",
"transcript": "NM_032142.4",
"protein_id": "NP_115518.3",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7346,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000506447.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032142.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7346G>A",
"hgvs_p": "p.Arg2449Gln",
"transcript": "ENST00000506447.5",
"protein_id": "ENSP00000427550.1",
"transcript_support_level": 5,
"aa_start": 2449,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7346,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032142.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506447.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.5960G>A",
"hgvs_p": "p.Arg1987Gln",
"transcript": "ENST00000511820.6",
"protein_id": "ENSP00000467038.1",
"transcript_support_level": 1,
"aa_start": 1987,
"aa_end": null,
"aa_length": 2075,
"cds_start": 5960,
"cds_end": null,
"cds_length": 6228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511820.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "n.*204G>A",
"hgvs_p": null,
"transcript": "ENST00000510237.5",
"protein_id": "ENSP00000423147.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "n.*6862G>A",
"hgvs_p": null,
"transcript": "ENST00000513432.5",
"protein_id": "ENSP00000424671.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "n.*204G>A",
"hgvs_p": null,
"transcript": "ENST00000510237.5",
"protein_id": "ENSP00000423147.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "n.*6862G>A",
"hgvs_p": null,
"transcript": "ENST00000513432.5",
"protein_id": "ENSP00000424671.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513432.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7349G>A",
"hgvs_p": "p.Arg2450Gln",
"transcript": "ENST00000912813.1",
"protein_id": "ENSP00000582872.1",
"transcript_support_level": null,
"aa_start": 2450,
"aa_end": null,
"aa_length": 2538,
"cds_start": 7349,
"cds_end": null,
"cds_length": 7617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912813.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7346G>A",
"hgvs_p": "p.Arg2449Gln",
"transcript": "ENST00000898442.1",
"protein_id": "ENSP00000568501.1",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7346,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898442.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7337G>A",
"hgvs_p": "p.Arg2446Gln",
"transcript": "ENST00000965466.1",
"protein_id": "ENSP00000635525.1",
"transcript_support_level": null,
"aa_start": 2446,
"aa_end": null,
"aa_length": 2534,
"cds_start": 7337,
"cds_end": null,
"cds_length": 7605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965466.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7256G>A",
"hgvs_p": "p.Arg2419Gln",
"transcript": "ENST00000912815.1",
"protein_id": "ENSP00000582874.1",
"transcript_support_level": null,
"aa_start": 2419,
"aa_end": null,
"aa_length": 2507,
"cds_start": 7256,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912815.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7139G>A",
"hgvs_p": "p.Arg2380Gln",
"transcript": "ENST00000912812.1",
"protein_id": "ENSP00000582871.1",
"transcript_support_level": null,
"aa_start": 2380,
"aa_end": null,
"aa_length": 2468,
"cds_start": 7139,
"cds_end": null,
"cds_length": 7407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912812.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7046G>A",
"hgvs_p": "p.Arg2349Gln",
"transcript": "ENST00000912816.1",
"protein_id": "ENSP00000582875.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2437,
"cds_start": 7046,
"cds_end": null,
"cds_length": 7314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912816.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.6329G>A",
"hgvs_p": "p.Arg2110Gln",
"transcript": "ENST00000912814.1",
"protein_id": "ENSP00000582873.1",
"transcript_support_level": null,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2198,
"cds_start": 6329,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912814.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"transcript": "ENST00000325971.12",
"protein_id": "ENSP00000317156.9",
"transcript_support_level": 5,
"aa_start": 1974,
"aa_end": null,
"aa_length": 2062,
"cds_start": 5921,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325971.12"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7349G>A",
"hgvs_p": "p.Arg2450Gln",
"transcript": "XM_005258107.4",
"protein_id": "XP_005258164.1",
"transcript_support_level": null,
"aa_start": 2450,
"aa_end": null,
"aa_length": 2538,
"cds_start": 7349,
"cds_end": null,
"cds_length": 7617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258107.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7349G>A",
"hgvs_p": "p.Arg2450Gln",
"transcript": "XM_006722326.4",
"protein_id": "XP_006722389.1",
"transcript_support_level": null,
"aa_start": 2450,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7349,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722326.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7346G>A",
"hgvs_p": "p.Arg2449Gln",
"transcript": "XM_047437562.1",
"protein_id": "XP_047293518.1",
"transcript_support_level": null,
"aa_start": 2449,
"aa_end": null,
"aa_length": 2505,
"cds_start": 7346,
"cds_end": null,
"cds_length": 7518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437562.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7175G>A",
"hgvs_p": "p.Arg2392Gln",
"transcript": "XM_011525673.3",
"protein_id": "XP_011523975.1",
"transcript_support_level": null,
"aa_start": 2392,
"aa_end": null,
"aa_length": 2480,
"cds_start": 7175,
"cds_end": null,
"cds_length": 7443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525673.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7172G>A",
"hgvs_p": "p.Arg2391Gln",
"transcript": "XM_047437563.1",
"protein_id": "XP_047293519.1",
"transcript_support_level": null,
"aa_start": 2391,
"aa_end": null,
"aa_length": 2479,
"cds_start": 7172,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437563.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7139G>A",
"hgvs_p": "p.Arg2380Gln",
"transcript": "XM_005258109.4",
"protein_id": "XP_005258166.1",
"transcript_support_level": null,
"aa_start": 2380,
"aa_end": null,
"aa_length": 2468,
"cds_start": 7139,
"cds_end": null,
"cds_length": 7407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258109.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP192",
"gene_hgnc_id": 25515,
"hgvs_c": "c.7136G>A",
"hgvs_p": "p.Arg2379Gln",
"transcript": "XM_006722327.4",
"protein_id": "XP_006722390.1",
"transcript_support_level": null,
"aa_start": 2379,
"aa_end": null,
"aa_length": 2467,
"cds_start": 7136,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032142.4",
"gene_symbol": "CEP192",
"hgnc_id": 25515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7346G>A",
"hgvs_p": "p.Arg2449Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}