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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: 6-160731787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160731787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 160731787,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000308192.14",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1481C>T",
"hgvs_p": "p.Ala494Val",
"transcript": "NM_000301.5",
"protein_id": "NP_000292.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 810,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": "ENST00000308192.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1481C>T",
"hgvs_p": "p.Ala494Val",
"transcript": "ENST00000308192.14",
"protein_id": "ENSP00000308938.9",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 810,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": "NM_000301.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Ala511Val",
"transcript": "ENST00000418964.2",
"protein_id": "ENSP00000389424.2",
"transcript_support_level": 4,
"aa_start": 511,
"aa_end": null,
"aa_length": 827,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Ala145Val",
"transcript": "ENST00000297289.9",
"protein_id": "ENSP00000516619.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 461,
"cds_start": 434,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.536C>T",
"hgvs_p": null,
"transcript": "ENST00000493435.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.1481C>T",
"hgvs_p": null,
"transcript": "ENST00000706906.1",
"protein_id": "ENSP00000516618.1",
"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": 5213,
"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": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.-44C>T",
"hgvs_p": null,
"transcript": "ENST00000706907.1",
"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": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"dbsnp": "rs4252128",
"frequency_reference_population": 0.0052437717,
"hom_count_reference_population": 121,
"allele_count_reference_population": 8462,
"gnomad_exomes_af": 0.00477775,
"gnomad_genomes_af": 0.00972029,
"gnomad_exomes_ac": 6983,
"gnomad_genomes_ac": 1479,
"gnomad_exomes_homalt": 100,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006421864032745361,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
"alphamissense_score": 0.3296,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.708,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000308192.14",
"gene_symbol": "PLG",
"hgnc_id": 9071,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1481C>T",
"hgvs_p": "p.Ala494Val"
}
],
"clinvar_disease": " susceptibility to,Otitis media,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Otitis media, susceptibility to|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}