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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: 1-35972221-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35972221&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 35972221,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373191.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "NM_024852.4",
"protein_id": "NP_079128.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 860,
"cds_start": 510,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 19660,
"mane_select": "ENST00000373191.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "ENST00000373191.9",
"protein_id": "ENSP00000362287.3",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 860,
"cds_start": 510,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 19660,
"mane_select": "NM_024852.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.-56G>A",
"hgvs_p": null,
"transcript": "ENST00000246314.10",
"protein_id": "ENSP00000246314.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "ENST00000324350.9",
"protein_id": "ENSP00000317425.5",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 229,
"cds_start": 510,
"cds_end": null,
"cds_length": 690,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "ENST00000397828.3",
"protein_id": "ENSP00000380928.2",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 229,
"cds_start": 510,
"cds_end": null,
"cds_length": 690,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "XM_005270575.5",
"protein_id": "XP_005270632.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 860,
"cds_start": 510,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 19617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu",
"transcript": "XM_017000523.3",
"protein_id": "XP_016856012.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 860,
"cds_start": 510,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 19633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.465G>A",
"hgvs_p": "p.Leu155Leu",
"transcript": "XM_011540879.4",
"protein_id": "XP_011539181.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 845,
"cds_start": 465,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 20771,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "n.319G>A",
"hgvs_p": null,
"transcript": "ENST00000491443.2",
"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": 548,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"transcript": "ENST00000634486.1",
"protein_id": "ENSP00000489286.1",
"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": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "c.-56G>A",
"hgvs_p": null,
"transcript": "NM_177422.3",
"protein_id": "NP_803171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"transcript": "ENST00000634486.1",
"protein_id": "ENSP00000489286.1",
"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": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGO3",
"gene_hgnc_id": 18421,
"dbsnp": "rs140942553",
"frequency_reference_population": 0.00025159228,
"hom_count_reference_population": 3,
"allele_count_reference_population": 406,
"gnomad_exomes_af": 0.000126587,
"gnomad_genomes_af": 0.00145133,
"gnomad_exomes_ac": 185,
"gnomad_genomes_ac": 221,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.698,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000373191.9",
"gene_symbol": "AGO3",
"hgnc_id": 18421,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Leu170Leu"
}
],
"clinvar_disease": "AGO3-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|AGO3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}