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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: 5-141638840-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141638840&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141638840,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173828.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "NM_173828.5",
"protein_id": "NP_776189.3",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297164.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173828.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000297164.8",
"protein_id": "ENSP00000297164.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173828.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297164.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000444782.5",
"protein_id": "ENSP00000409443.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444782.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "n.1451G>C",
"hgvs_p": null,
"transcript": "ENST00000518025.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000518025.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "NM_001130029.2",
"protein_id": "NP_001123501.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130029.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000896721.1",
"protein_id": "ENSP00000566780.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896721.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.32G>C",
"hgvs_p": "p.Arg11Pro",
"transcript": "ENST00000518856.1",
"protein_id": "ENSP00000427992.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 237,
"cds_start": 32,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518856.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.32G>C",
"hgvs_p": "p.Arg11Pro",
"transcript": "ENST00000521367.5",
"protein_id": "ENSP00000430948.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 232,
"cds_start": 32,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521367.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "XM_005268414.5",
"protein_id": "XP_005268471.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 349,
"cds_start": 230,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268414.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "XM_011537624.3",
"protein_id": "XP_011535926.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 349,
"cds_start": 230,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537624.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "XM_011537625.4",
"protein_id": "XP_011535927.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 348,
"cds_start": 230,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537625.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "XM_047417113.1",
"protein_id": "XP_047273069.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 303,
"cds_start": 230,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417113.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "n.591G>C",
"hgvs_p": null,
"transcript": "ENST00000517794.1",
"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": "ENST00000517794.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"hgvs_c": "n.1506G>C",
"hgvs_p": null,
"transcript": "ENST00000520674.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000520674.5"
}
],
"gene_symbol": "RELL2",
"gene_hgnc_id": 26902,
"dbsnp": "rs189638154",
"frequency_reference_population": 0.0000013681575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136816,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6998521685600281,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.9878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.79,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173828.5",
"gene_symbol": "RELL2",
"hgnc_id": 26902,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}