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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: 5-161689062-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=161689062&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 161689062,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000274545.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Thr113Thr",
"transcript": "NM_000811.3",
"protein_id": "NP_000802.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 453,
"cds_start": 339,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "ENST00000274545.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Thr113Thr",
"transcript": "ENST00000274545.10",
"protein_id": "ENSP00000274545.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 453,
"cds_start": 339,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": "NM_000811.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Thr103Thr",
"transcript": "ENST00000523217.5",
"protein_id": "ENSP00000430527.1",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 443,
"cds_start": 309,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.156G>A",
"hgvs_p": "p.Thr52Thr",
"transcript": "ENST00000520000.5",
"protein_id": "ENSP00000429943.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 195,
"cds_start": 156,
"cds_end": null,
"cds_length": 589,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Thr8Thr",
"transcript": "ENST00000523691.1",
"protein_id": "ENSP00000427989.1",
"transcript_support_level": 4,
"aa_start": 8,
"aa_end": null,
"aa_length": 190,
"cds_start": 24,
"cds_end": null,
"cds_length": 573,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "c.180G>A",
"hgvs_p": "p.Thr60Thr",
"transcript": "ENST00000517823.5",
"protein_id": "ENSP00000430212.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 180,
"cds_end": null,
"cds_length": 555,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 555,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "n.469G>A",
"hgvs_p": null,
"transcript": "ENST00000524220.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GABRA6-AS1",
"gene_hgnc_id": 40248,
"hgvs_c": "n.149+198C>T",
"hgvs_p": null,
"transcript": "ENST00000521984.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GABRA6-AS1",
"gene_hgnc_id": 40248,
"hgvs_c": "n.151+198C>T",
"hgvs_p": null,
"transcript": "NR_189170.1",
"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": 456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"hgvs_c": "n.*68G>A",
"hgvs_p": null,
"transcript": "ENST00000522269.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRA6",
"gene_hgnc_id": 4080,
"dbsnp": "rs113239794",
"frequency_reference_population": 0.00022676692,
"hom_count_reference_population": 3,
"allele_count_reference_population": 366,
"gnomad_exomes_af": 0.000216865,
"gnomad_genomes_af": 0.000321835,
"gnomad_exomes_ac": 317,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017000000923871994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.368,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000274545.10",
"gene_symbol": "GABRA6",
"hgnc_id": 4080,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Thr113Thr"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000521984.1",
"gene_symbol": "GABRA6-AS1",
"hgnc_id": 40248,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149+198C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Childhood absence epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Childhood absence epilepsy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}