← Back to variant description
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: 5-151828939-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151828939&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151828939,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000274576.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"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": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Arg347Arg",
"transcript": "NM_000171.4",
"protein_id": "NP_000162.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 449,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "ENST00000274576.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"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": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Arg347Arg",
"transcript": "ENST00000274576.9",
"protein_id": "ENSP00000274576.5",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 449,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": "NM_000171.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Arg347Arg",
"transcript": "ENST00000455880.2",
"protein_id": "ENSP00000411593.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 457,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 1707,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "n.*799G>A",
"hgvs_p": null,
"transcript": "ENST00000462581.6",
"protein_id": "ENSP00000430595.1",
"transcript_support_level": 1,
"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": 1555,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "n.*799G>A",
"hgvs_p": null,
"transcript": "ENST00000462581.6",
"protein_id": "ENSP00000430595.1",
"transcript_support_level": 1,
"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": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Arg347Arg",
"transcript": "NM_001146040.2",
"protein_id": "NP_001139512.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 457,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Arg264Arg",
"transcript": "NM_001292000.2",
"protein_id": "NP_001278929.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 366,
"cds_start": 792,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "GLRA1",
"gene_hgnc_id": 4326,
"hgvs_c": "c.1089G>A",
"hgvs_p": "p.Arg363Arg",
"transcript": "XM_047417105.1",
"protein_id": "XP_047273061.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 465,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLRA1",
"gene_hgnc_id": 4326,
"dbsnp": "rs75463357",
"frequency_reference_population": 0.020165257,
"hom_count_reference_population": 412,
"allele_count_reference_population": 32546,
"gnomad_exomes_af": 0.0206756,
"gnomad_genomes_af": 0.0152687,
"gnomad_exomes_ac": 30220,
"gnomad_genomes_ac": 2326,
"gnomad_exomes_homalt": 393,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"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": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.452,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000274576.9",
"gene_symbol": "GLRA1",
"hgnc_id": 4326,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Arg347Arg"
}
],
"clinvar_disease": "Hereditary hyperekplexia,Hyperekplexia 1,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Hyperekplexia 1|Hereditary hyperekplexia|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}