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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: 2-74519195-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74519195&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74519195,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000404568.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "c.1842T>A",
"hgvs_p": "p.Leu614Leu",
"transcript": "NM_133637.3",
"protein_id": "NP_598376.2",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 717,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": "ENST00000404568.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "c.1842T>A",
"hgvs_p": "p.Leu614Leu",
"transcript": "ENST00000404568.4",
"protein_id": "ENSP00000384621.3",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 717,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": "NM_133637.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "c.1842T>A",
"hgvs_p": "p.Leu614Leu",
"transcript": "ENST00000393951.6",
"protein_id": "ENSP00000377523.2",
"transcript_support_level": 2,
"aa_start": 614,
"aa_end": null,
"aa_length": 717,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "c.1488T>A",
"hgvs_p": "p.Leu496Leu",
"transcript": "XM_047443583.1",
"protein_id": "XP_047299539.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 599,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "c.1116T>A",
"hgvs_p": "p.Leu372Leu",
"transcript": "XM_011532645.1",
"protein_id": "XP_011530947.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 475,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 1922,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "n.*662T>A",
"hgvs_p": null,
"transcript": "ENST00000418139.5",
"protein_id": "ENSP00000389196.1",
"transcript_support_level": 5,
"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": 1688,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"hgvs_c": "n.*662T>A",
"hgvs_p": null,
"transcript": "ENST00000418139.5",
"protein_id": "ENSP00000389196.1",
"transcript_support_level": 5,
"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": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DQX1",
"gene_hgnc_id": 20410,
"dbsnp": "rs6546909",
"frequency_reference_population": 0.20908043,
"hom_count_reference_population": 56858,
"allele_count_reference_population": 333150,
"gnomad_exomes_af": 0.194918,
"gnomad_genomes_af": 0.34332,
"gnomad_exomes_ac": 280944,
"gnomad_genomes_ac": 52206,
"gnomad_exomes_homalt": 42800,
"gnomad_genomes_homalt": 14058,
"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": -0.192,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000404568.4",
"gene_symbol": "DQX1",
"hgnc_id": 20410,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1842T>A",
"hgvs_p": "p.Leu614Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}