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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: 6-24818557-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24818557&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24818557,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000643898.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2937T>G",
"hgvs_p": "p.Ala979Ala",
"transcript": "NM_001286445.3",
"protein_id": "NP_001273374.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": "ENST00000643898.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2937T>G",
"hgvs_p": "p.Ala979Ala",
"transcript": "ENST00000643898.2",
"protein_id": "ENSP00000494268.2",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": "NM_001286445.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3000T>G",
"hgvs_p": "p.Ala1000Ala",
"transcript": "ENST00000259698.9",
"protein_id": "ENSP00000259698.4",
"transcript_support_level": 1,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3000T>G",
"hgvs_p": "p.Ala1000Ala",
"transcript": "NM_014722.5",
"protein_id": "NP_055537.2",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3000T>G",
"hgvs_p": "p.Ala1000Ala",
"transcript": "ENST00000613507.4",
"protein_id": "ENSP00000482957.1",
"transcript_support_level": 5,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2850T>G",
"hgvs_p": "p.Ala950Ala",
"transcript": "NM_001346031.2",
"protein_id": "NP_001332960.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2850T>G",
"hgvs_p": "p.Ala950Ala",
"transcript": "NM_001346032.2",
"protein_id": "NP_001332961.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2850T>G",
"hgvs_p": "p.Ala950Ala",
"transcript": "ENST00000538035.6",
"protein_id": "ENSP00000441138.2",
"transcript_support_level": 2,
"aa_start": 950,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3102T>G",
"hgvs_p": "p.Ala1034Ala",
"transcript": "XM_011515012.2",
"protein_id": "XP_011513314.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2952T>G",
"hgvs_p": "p.Ala984Ala",
"transcript": "XM_006715275.3",
"protein_id": "XP_006715338.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2952,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.2850T>G",
"hgvs_p": "p.Ala950Ala",
"transcript": "XM_006715279.3",
"protein_id": "XP_006715342.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"dbsnp": "rs9358802",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"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": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.073,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000643898.2",
"gene_symbol": "RIPOR2",
"hgnc_id": 13872,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2937T>G",
"hgvs_p": "p.Ala979Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}