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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: 2-203870594-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203870594&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203870594,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005214.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met",
"transcript": "NM_005214.5",
"protein_id": "NP_005205.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 223,
"cds_start": 118,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648405.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005214.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met",
"transcript": "ENST00000648405.2",
"protein_id": "ENSP00000497102.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 223,
"cds_start": 118,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005214.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648405.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.110-2114G>A",
"hgvs_p": null,
"transcript": "ENST00000487393.1",
"protein_id": "ENSP00000497319.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487393.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Val64Met",
"transcript": "ENST00000696479.1",
"protein_id": "ENSP00000512655.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 247,
"cds_start": 190,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696479.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met",
"transcript": "ENST00000696049.1",
"protein_id": "ENSP00000512353.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 203,
"cds_start": 118,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696049.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met",
"transcript": "NM_001037631.3",
"protein_id": "NP_001032720.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 174,
"cds_start": 118,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037631.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met",
"transcript": "ENST00000295854.10",
"protein_id": "ENSP00000295854.6",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 174,
"cds_start": 118,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295854.10"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "n.152G>A",
"hgvs_p": null,
"transcript": "ENST00000427473.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000427473.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"hgvs_c": "n.142G>A",
"hgvs_p": null,
"transcript": "ENST00000650075.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000650075.1"
}
],
"gene_symbol": "CTLA4",
"gene_hgnc_id": 2505,
"dbsnp": "rs1553657378",
"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": 0.9416273832321167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.659,
"phylop100way_prediction": "Uncertain_significance",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005214.5",
"gene_symbol": "CTLA4",
"hgnc_id": 2505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Met"
}
],
"clinvar_disease": " 3, susceptibility to,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency,Celiac disease,Hashimoto thyroiditis,Inborn genetic diseases,Systemic lupus erythematosus,Type 1 diabetes mellitus 12,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:5 US:2",
"phenotype_combined": "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|not provided|Celiac disease, susceptibility to, 3;Hashimoto thyroiditis;Systemic lupus erythematosus;Type 1 diabetes mellitus 12;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}