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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: 12-113187012-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113187012&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113187012,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286215.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "NM_032848.3",
"protein_id": "NP_116237.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000548278.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032848.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000548278.2",
"protein_id": "ENSP00000449841.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032848.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548278.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Thr113Ile",
"transcript": "NM_001286215.2",
"protein_id": "NP_001273144.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 293,
"cds_start": 338,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286215.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Thr113Ile",
"transcript": "ENST00000552495.1",
"protein_id": "ENSP00000448680.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 293,
"cds_start": 338,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552495.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000549621.5",
"protein_id": "ENSP00000448289.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549621.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000865301.1",
"protein_id": "ENSP00000535360.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865301.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000865302.1",
"protein_id": "ENSP00000535361.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865302.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000865303.1",
"protein_id": "ENSP00000535362.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865303.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000865304.1",
"protein_id": "ENSP00000535363.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865304.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000932688.1",
"protein_id": "ENSP00000602747.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932688.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000932689.1",
"protein_id": "ENSP00000602748.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932689.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000960881.1",
"protein_id": "ENSP00000630940.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960881.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000960882.1",
"protein_id": "ENSP00000630941.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960882.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000960883.1",
"protein_id": "ENSP00000630942.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960883.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000960884.1",
"protein_id": "ENSP00000630943.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 269,
"cds_start": 266,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960884.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Ile",
"transcript": "ENST00000615042.1",
"protein_id": "ENSP00000484184.1",
"transcript_support_level": 6,
"aa_start": 26,
"aa_end": null,
"aa_length": 38,
"cds_start": 77,
"cds_end": null,
"cds_length": 117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615042.1"
},
{
"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": "ENSG00000257286",
"gene_hgnc_id": null,
"hgvs_c": "n.70-1210G>A",
"hgvs_p": null,
"transcript": "ENST00000552525.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000552525.1"
}
],
"gene_symbol": "RITA1",
"gene_hgnc_id": 25925,
"dbsnp": "rs1398698044",
"frequency_reference_population": 0.0000068428644,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000687141,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10446763038635254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.1292,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.782,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286215.2",
"gene_symbol": "RITA1",
"hgnc_id": 25925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Thr113Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000552525.1",
"gene_symbol": "ENSG00000257286",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.70-1210G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}