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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: 6-24806423-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24806423&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24806423,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014722.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3094T>C",
"hgvs_p": "p.Cys1032Arg",
"transcript": "NM_001286445.3",
"protein_id": "NP_001273374.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643898.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286445.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3094T>C",
"hgvs_p": "p.Cys1032Arg",
"transcript": "ENST00000643898.2",
"protein_id": "ENSP00000494268.2",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286445.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643898.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3157T>C",
"hgvs_p": "p.Cys1053Arg",
"transcript": "ENST00000259698.9",
"protein_id": "ENSP00000259698.4",
"transcript_support_level": 1,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259698.9"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282804",
"gene_hgnc_id": null,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Cys45Arg",
"transcript": "ENST00000562221.1",
"protein_id": "ENSP00000455145.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 60,
"cds_start": 133,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562221.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3157T>C",
"hgvs_p": "p.Cys1053Arg",
"transcript": "NM_014722.5",
"protein_id": "NP_055537.2",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014722.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3157T>C",
"hgvs_p": "p.Cys1053Arg",
"transcript": "ENST00000613507.4",
"protein_id": "ENSP00000482957.1",
"transcript_support_level": 5,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613507.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3094T>C",
"hgvs_p": "p.Cys1032Arg",
"transcript": "ENST00000938271.1",
"protein_id": "ENSP00000608330.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938271.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3007T>C",
"hgvs_p": "p.Cys1003Arg",
"transcript": "NM_001346031.2",
"protein_id": "NP_001332960.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1018,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346031.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3007T>C",
"hgvs_p": "p.Cys1003Arg",
"transcript": "NM_001346032.2",
"protein_id": "NP_001332961.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1018,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346032.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3007T>C",
"hgvs_p": "p.Cys1003Arg",
"transcript": "ENST00000538035.6",
"protein_id": "ENSP00000441138.2",
"transcript_support_level": 2,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1018,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538035.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3259T>C",
"hgvs_p": "p.Cys1087Arg",
"transcript": "XM_011515012.2",
"protein_id": "XP_011513314.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1102,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515012.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3109T>C",
"hgvs_p": "p.Cys1037Arg",
"transcript": "XM_006715275.3",
"protein_id": "XP_006715338.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3109,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715275.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"hgvs_c": "c.3007T>C",
"hgvs_p": "p.Cys1003Arg",
"transcript": "XM_006715279.3",
"protein_id": "XP_006715342.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1018,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715279.3"
}
],
"gene_symbol": "RIPOR2",
"gene_hgnc_id": 13872,
"dbsnp": "rs756843533",
"frequency_reference_population": 0.000025133368,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000257234,
"gnomad_genomes_af": 0.0000197086,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08279624581336975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.1039,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.275,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014722.5",
"gene_symbol": "RIPOR2",
"hgnc_id": 13872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3157T>C",
"hgvs_p": "p.Cys1053Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000562221.1",
"gene_symbol": "ENSG00000282804",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Cys45Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}