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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-149482798-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=149482798&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 149482798,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000202.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"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.1601A>T",
"hgvs_p": "p.Asn534Ile",
"transcript": "NM_000202.8",
"protein_id": "NP_000193.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 550,
"cds_start": 1601,
"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": "N",
"aa_alt": "I",
"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.1601A>T",
"hgvs_p": "p.Asn534Ile",
"transcript": "ENST00000340855.11",
"protein_id": "ENSP00000339801.6",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 550,
"cds_start": 1601,
"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": "N",
"aa_alt": "I",
"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.968A>T",
"hgvs_p": "p.Asn323Ile",
"transcript": "ENST00000651111.1",
"protein_id": "ENSP00000498395.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 339,
"cds_start": 968,
"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": "N",
"aa_alt": "I",
"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.1682A>T",
"hgvs_p": "p.Asn561Ile",
"transcript": "ENST00000875674.1",
"protein_id": "ENSP00000545733.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 577,
"cds_start": 1682,
"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": "N",
"aa_alt": "I",
"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.1661A>T",
"hgvs_p": "p.Asn554Ile",
"transcript": "ENST00000875673.1",
"protein_id": "ENSP00000545732.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 570,
"cds_start": 1661,
"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": "N",
"aa_alt": "I",
"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.1646A>T",
"hgvs_p": "p.Asn549Ile",
"transcript": "ENST00000875670.1",
"protein_id": "ENSP00000545729.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 565,
"cds_start": 1646,
"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": "N",
"aa_alt": "I",
"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.1646A>T",
"hgvs_p": "p.Asn549Ile",
"transcript": "ENST00000947400.1",
"protein_id": "ENSP00000617459.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 565,
"cds_start": 1646,
"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": "N",
"aa_alt": "I",
"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.1592A>T",
"hgvs_p": "p.Asn531Ile",
"transcript": "ENST00000875672.1",
"protein_id": "ENSP00000545731.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 547,
"cds_start": 1592,
"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": "N",
"aa_alt": "I",
"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.1487A>T",
"hgvs_p": "p.Asn496Ile",
"transcript": "ENST00000947401.1",
"protein_id": "ENSP00000617460.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 512,
"cds_start": 1487,
"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": "N",
"aa_alt": "I",
"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.1472A>T",
"hgvs_p": "p.Asn491Ile",
"transcript": "ENST00000875668.1",
"protein_id": "ENSP00000545727.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 507,
"cds_start": 1472,
"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": "N",
"aa_alt": "I",
"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.1460A>T",
"hgvs_p": "p.Asn487Ile",
"transcript": "ENST00000875669.1",
"protein_id": "ENSP00000545728.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 503,
"cds_start": 1460,
"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": "N",
"aa_alt": "I",
"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.1427A>T",
"hgvs_p": "p.Asn476Ile",
"transcript": "ENST00000875667.1",
"protein_id": "ENSP00000545726.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 492,
"cds_start": 1427,
"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": "N",
"aa_alt": "I",
"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.1400A>T",
"hgvs_p": "p.Asn467Ile",
"transcript": "ENST00000930297.1",
"protein_id": "ENSP00000600356.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 483,
"cds_start": 1400,
"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": "N",
"aa_alt": "I",
"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.1391A>T",
"hgvs_p": "p.Asn464Ile",
"transcript": "ENST00000930298.1",
"protein_id": "ENSP00000600357.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 480,
"cds_start": 1391,
"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": "N",
"aa_alt": "I",
"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.1331A>T",
"hgvs_p": "p.Asn444Ile",
"transcript": "NM_001166550.4",
"protein_id": "NP_001160022.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 460,
"cds_start": 1331,
"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": "N",
"aa_alt": "I",
"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.1286A>T",
"hgvs_p": "p.Asn429Ile",
"transcript": "ENST00000875671.1",
"protein_id": "ENSP00000545730.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 445,
"cds_start": 1286,
"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": "N",
"aa_alt": "I",
"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.968A>T",
"hgvs_p": "p.Asn323Ile",
"transcript": "ENST00000422081.6",
"protein_id": "ENSP00000477056.1",
"transcript_support_level": 2,
"aa_start": 323,
"aa_end": null,
"aa_length": 339,
"cds_start": 968,
"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": null,
"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": 0.9176802635192871,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.754,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.826,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000202.8",
"gene_symbol": "IDS",
"hgnc_id": 5389,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1601A>T",
"hgvs_p": "p.Asn534Ile"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000651111.1",
"gene_symbol": "ENSG00000241489",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.968A>T",
"hgvs_p": "p.Asn323Ile"
}
],
"clinvar_disease": " MPS-II,Mucopolysaccharidosis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mucopolysaccharidosis, MPS-II",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}