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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: 11-45915755-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45915755&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45915755,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378750.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Val103Leu",
"transcript": "NM_004813.4",
"protein_id": "NP_004804.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 336,
"cds_start": 307,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": "ENST00000378750.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Val103Leu",
"transcript": "ENST00000378750.10",
"protein_id": "ENSP00000368024.5",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 336,
"cds_start": 307,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": "NM_004813.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Val103Leu",
"transcript": "ENST00000241041.7",
"protein_id": "ENSP00000241041.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 346,
"cds_start": 307,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Val103Leu",
"transcript": "NM_057174.3",
"protein_id": "NP_476515.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 346,
"cds_start": 307,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Val8Leu",
"transcript": "ENST00000532681.5",
"protein_id": "ENSP00000434654.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 241,
"cds_start": 22,
"cds_end": null,
"cds_length": 726,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Val8Leu",
"transcript": "ENST00000525192.5",
"protein_id": "ENSP00000431309.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 159,
"cds_start": 22,
"cds_end": null,
"cds_length": 482,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Val62Leu",
"transcript": "XM_047427886.1",
"protein_id": "XP_047283842.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 295,
"cds_start": 184,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Val62Leu",
"transcript": "XM_047427887.1",
"protein_id": "XP_047283843.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 295,
"cds_start": 184,
"cds_end": null,
"cds_length": 888,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Val8Leu",
"transcript": "XM_047427888.1",
"protein_id": "XP_047283844.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 241,
"cds_start": 22,
"cds_end": null,
"cds_length": 726,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 2191,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*260G>C",
"hgvs_p": null,
"transcript": "ENST00000525229.5",
"protein_id": "ENSP00000431132.1",
"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": 588,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*206G>C",
"hgvs_p": null,
"transcript": "ENST00000528674.5",
"protein_id": "ENSP00000434060.1",
"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": 795,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*292G>C",
"hgvs_p": null,
"transcript": "ENST00000529030.1",
"protein_id": "ENSP00000432486.1",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*260G>C",
"hgvs_p": null,
"transcript": "ENST00000525229.5",
"protein_id": "ENSP00000431132.1",
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*206G>C",
"hgvs_p": null,
"transcript": "ENST00000528674.5",
"protein_id": "ENSP00000434060.1",
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.*292G>C",
"hgvs_p": null,
"transcript": "ENST00000529030.1",
"protein_id": "ENSP00000432486.1",
"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": 794,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "c.149-1071G>C",
"hgvs_p": null,
"transcript": "ENST00000533151.5",
"protein_id": "ENSP00000433045.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": -4,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.131-187G>C",
"hgvs_p": null,
"transcript": "ENST00000532554.5",
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"hgvs_c": "n.-212G>C",
"hgvs_p": null,
"transcript": "ENST00000527371.1",
"protein_id": null,
"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": 362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PEX16",
"gene_hgnc_id": 8857,
"dbsnp": "rs11553094",
"frequency_reference_population": 0.0000024783824,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205218,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3018348217010498,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.1334,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.028,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378750.10",
"gene_symbol": "PEX16",
"hgnc_id": 8857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.307G>C",
"hgvs_p": "p.Val103Leu"
}
],
"clinvar_disease": "Peroxisome biogenesis disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Peroxisome biogenesis disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}