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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: X-149482750-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=149482750&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 149482750,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000202.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Pro550Arg",
"transcript": "NM_000202.8",
"protein_id": "NP_000193.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 550,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340855.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000202.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Pro550Arg",
"transcript": "ENST00000340855.11",
"protein_id": "ENSP00000339801.6",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 550,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000202.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340855.11"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241489",
"gene_hgnc_id": null,
"hgvs_c": "c.1016C>G",
"hgvs_p": "p.Pro339Arg",
"transcript": "ENST00000651111.1",
"protein_id": "ENSP00000498395.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 339,
"cds_start": 1016,
"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": "ENST00000651111.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1730C>G",
"hgvs_p": "p.Pro577Arg",
"transcript": "ENST00000875674.1",
"protein_id": "ENSP00000545733.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 577,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875674.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Pro570Arg",
"transcript": "ENST00000875673.1",
"protein_id": "ENSP00000545732.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 570,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875673.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1694C>G",
"hgvs_p": "p.Pro565Arg",
"transcript": "ENST00000875670.1",
"protein_id": "ENSP00000545729.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 565,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875670.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1694C>G",
"hgvs_p": "p.Pro565Arg",
"transcript": "ENST00000947400.1",
"protein_id": "ENSP00000617459.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 565,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947400.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Pro547Arg",
"transcript": "ENST00000875672.1",
"protein_id": "ENSP00000545731.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 547,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875672.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Pro512Arg",
"transcript": "ENST00000947401.1",
"protein_id": "ENSP00000617460.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 512,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947401.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1520C>G",
"hgvs_p": "p.Pro507Arg",
"transcript": "ENST00000875668.1",
"protein_id": "ENSP00000545727.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 507,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875668.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Pro503Arg",
"transcript": "ENST00000875669.1",
"protein_id": "ENSP00000545728.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 503,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875669.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1475C>G",
"hgvs_p": "p.Pro492Arg",
"transcript": "ENST00000875667.1",
"protein_id": "ENSP00000545726.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 492,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875667.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1448C>G",
"hgvs_p": "p.Pro483Arg",
"transcript": "ENST00000930297.1",
"protein_id": "ENSP00000600356.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 483,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930297.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1439C>G",
"hgvs_p": "p.Pro480Arg",
"transcript": "ENST00000930298.1",
"protein_id": "ENSP00000600357.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 480,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930298.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1379C>G",
"hgvs_p": "p.Pro460Arg",
"transcript": "NM_001166550.4",
"protein_id": "NP_001160022.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 460,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166550.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1334C>G",
"hgvs_p": "p.Pro445Arg",
"transcript": "ENST00000875671.1",
"protein_id": "ENSP00000545730.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 445,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875671.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241489",
"gene_hgnc_id": null,
"hgvs_c": "c.1016C>G",
"hgvs_p": "p.Pro339Arg",
"transcript": "ENST00000422081.6",
"protein_id": "ENSP00000477056.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 339,
"cds_start": 1016,
"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": "ENST00000422081.6"
}
],
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"dbsnp": "rs782041174",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34044885635375977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.148,
"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": "NM_000202.8",
"gene_symbol": "IDS",
"hgnc_id": 5389,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1649C>G",
"hgvs_p": "p.Pro550Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651111.1",
"gene_symbol": "ENSG00000241489",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1016C>G",
"hgvs_p": "p.Pro339Arg"
}
],
"clinvar_disease": " MPS-II,Mucopolysaccharidosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Mucopolysaccharidosis, MPS-II",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}