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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-149501018-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=149501018&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "ENSG00000241489",
"hgnc_id": null,
"hgvs_c": "c.-196C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000651111.1",
"verdict": "Benign"
},
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "IDS",
"hgnc_id": 5389,
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000202.8",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 400532,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": " MPS-II,Inborn genetic diseases,Mucopolysaccharidosis,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9159,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651111.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000241489",
"hgvs_c": "c.-196C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498395.1",
"strand": false,
"transcript": "ENST00000651111.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 550,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7580,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1653,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000202.8",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340855.11",
"protein_coding": true,
"protein_id": "NP_000193.1",
"strand": false,
"transcript": "NM_000202.8",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 550,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7580,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1653,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000340855.11",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000202.8",
"protein_coding": true,
"protein_id": "ENSP00000339801.6",
"strand": false,
"transcript": "ENST00000340855.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 343,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1032,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000370441.8",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359470.4",
"strand": false,
"transcript": "ENST00000370441.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9159,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651111.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000241489",
"hgvs_c": "c.-196C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498395.1",
"strand": false,
"transcript": "ENST00000651111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000466323.5",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "n.438C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418264.1",
"strand": false,
"transcript": "ENST00000466323.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000422081.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000241489",
"hgvs_c": "c.-196C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477056.1",
"strand": false,
"transcript": "ENST00000422081.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 577,
"aa_ref": "T",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1734,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875674.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.519C>T",
"hgvs_p": "p.Thr173Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545733.1",
"strand": false,
"transcript": "ENST00000875674.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 570,
"aa_ref": "T",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1713,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875673.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Thr166Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545732.1",
"strand": false,
"transcript": "ENST00000875673.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 565,
"aa_ref": "T",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5125,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1698,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875670.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.483C>T",
"hgvs_p": "p.Thr161Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545729.1",
"strand": false,
"transcript": "ENST00000875670.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 565,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1698,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947400.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617459.1",
"strand": false,
"transcript": "ENST00000947400.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1644,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875672.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545731.1",
"strand": false,
"transcript": "ENST00000875672.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 512,
"aa_ref": "T",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1539,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947401.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.498C>T",
"hgvs_p": "p.Thr166Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617460.1",
"strand": false,
"transcript": "ENST00000947401.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1524,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875668.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.483C>T",
"hgvs_p": "p.Thr161Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545727.1",
"strand": false,
"transcript": "ENST00000875668.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5004,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1512,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875669.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545728.1",
"strand": false,
"transcript": "ENST00000875669.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1479,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875667.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545726.1",
"strand": false,
"transcript": "ENST00000875667.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1452,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930297.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600356.1",
"strand": false,
"transcript": "ENST00000930297.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 480,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1443,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930298.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.438C>T",
"hgvs_p": "p.Thr146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600357.1",
"strand": false,
"transcript": "ENST00000930298.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "T",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1383,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001166550.4",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Thr56Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001160022.1",
"strand": false,
"transcript": "NM_001166550.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "T",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4757,
"cdna_start": 313,
"cds_end": null,
"cds_length": 1338,
"cds_start": 123,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000875671.1",
"gene_hgnc_id": 5389,
"gene_symbol": "IDS",
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Thr41Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545730.1",
"strand": false,
"transcript": "ENST00000875671.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 343,
"aa_ref": "T",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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