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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: 9-121020021-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121020021&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 121020021,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000223642.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Thr487Thr",
"transcript": "NM_001735.3",
"protein_id": "NP_001726.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1676,
"cds_start": 1461,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "ENST00000223642.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Thr487Thr",
"transcript": "ENST00000223642.3",
"protein_id": "ENSP00000223642.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 1676,
"cds_start": 1461,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": "NM_001735.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "NM_001317163.2",
"protein_id": "NP_001304092.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1682,
"cds_start": 1479,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Thr493Thr",
"transcript": "ENST00000696281.1",
"protein_id": "ENSP00000512521.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1682,
"cds_start": 1479,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Thr487Thr",
"transcript": "NM_001317164.2",
"protein_id": "NP_001304093.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 902,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "c.456C>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000466280.2",
"protein_id": "ENSP00000513491.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 567,
"cds_start": 456,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1941,
"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": 13,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*1648C>T",
"hgvs_p": null,
"transcript": "ENST00000696279.1",
"protein_id": "ENSP00000512520.1",
"transcript_support_level": null,
"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": 6866,
"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": 12,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.1550C>T",
"hgvs_p": null,
"transcript": "ENST00000696280.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6635,
"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": 13,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*1451C>T",
"hgvs_p": null,
"transcript": "ENST00000697922.1",
"protein_id": "ENSP00000513478.1",
"transcript_support_level": null,
"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": 6947,
"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": 13,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.2066C>T",
"hgvs_p": null,
"transcript": "ENST00000697923.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9114,
"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": 13,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*1648C>T",
"hgvs_p": null,
"transcript": "ENST00000696279.1",
"protein_id": "ENSP00000512520.1",
"transcript_support_level": null,
"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": 6866,
"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": 13,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"hgvs_c": "n.*1451C>T",
"hgvs_p": null,
"transcript": "ENST00000697922.1",
"protein_id": "ENSP00000513478.1",
"transcript_support_level": null,
"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": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C5",
"gene_hgnc_id": 1331,
"dbsnp": "rs2230214",
"frequency_reference_population": 0.101490565,
"hom_count_reference_population": 9074,
"allele_count_reference_population": 163154,
"gnomad_exomes_af": 0.101018,
"gnomad_genomes_af": 0.106009,
"gnomad_exomes_ac": 147033,
"gnomad_genomes_ac": 16121,
"gnomad_exomes_homalt": 8160,
"gnomad_genomes_homalt": 914,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.062,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000223642.3",
"gene_symbol": "C5",
"hgnc_id": 1331,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1461C>T",
"hgvs_p": "p.Thr487Thr"
}
],
"clinvar_disease": "C5-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|C5-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}