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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: 8-140558523-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140558523&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 140558523,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012154.5",
"consequences": [
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Arg280Arg",
"transcript": "NM_012154.5",
"protein_id": "NP_036286.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 859,
"cds_start": 840,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220592.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012154.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Arg280Arg",
"transcript": "ENST00000220592.10",
"protein_id": "ENSP00000220592.5",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 859,
"cds_start": 840,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012154.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220592.10"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Arg280Arg",
"transcript": "ENST00000519980.5",
"protein_id": "ENSP00000430176.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 825,
"cds_start": 840,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "n.*425C>T",
"hgvs_p": null,
"transcript": "ENST00000523609.5",
"protein_id": "ENSP00000430164.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "n.*425C>T",
"hgvs_p": null,
"transcript": "ENST00000523609.5",
"protein_id": "ENSP00000430164.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523609.5"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Arg280Arg",
"transcript": "NM_001164623.3",
"protein_id": "NP_001158095.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 825,
"cds_start": 840,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164623.3"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Arg294Arg",
"transcript": "XM_011516965.3",
"protein_id": "XP_011515267.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 873,
"cds_start": 882,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516965.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Arg294Arg",
"transcript": "XM_047421695.1",
"protein_id": "XP_047277651.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 839,
"cds_start": 882,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421695.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Arg234Arg",
"transcript": "XM_011516968.3",
"protein_id": "XP_011515270.3",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 813,
"cds_start": 702,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516968.3"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Arg234Arg",
"transcript": "XM_047421696.1",
"protein_id": "XP_047277652.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 813,
"cds_start": 702,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421696.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Arg234Arg",
"transcript": "XM_047421697.1",
"protein_id": "XP_047277653.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 813,
"cds_start": 702,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421697.1"
}
],
"gene_symbol": "AGO2",
"gene_hgnc_id": 3263,
"dbsnp": "rs2292778",
"frequency_reference_population": 0.5530886,
"hom_count_reference_population": 251392,
"allele_count_reference_population": 892643,
"gnomad_exomes_af": 0.54603,
"gnomad_genomes_af": 0.62089,
"gnomad_exomes_ac": 798161,
"gnomad_genomes_ac": 94482,
"gnomad_exomes_homalt": 220753,
"gnomad_genomes_homalt": 30639,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.179,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "NM_012154.5",
"gene_symbol": "AGO2",
"hgnc_id": 3263,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Arg280Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}