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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: 5-32107658-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=32107658&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 32107658,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_178140.4",
"consequences": [
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8354-311T>C",
"hgvs_p": null,
"transcript": "NM_178140.4",
"protein_id": "NP_835260.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2839,
"cds_start": null,
"cds_end": null,
"cds_length": 8520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438447.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178140.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8354-311T>C",
"hgvs_p": null,
"transcript": "ENST00000438447.2",
"protein_id": "ENSP00000402033.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2839,
"cds_start": null,
"cds_end": null,
"cds_length": 8520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178140.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438447.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "n.98-311T>C",
"hgvs_p": null,
"transcript": "ENST00000397559.3",
"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": "ENST00000397559.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "n.140+198T>C",
"hgvs_p": null,
"transcript": "ENST00000510285.1",
"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": "ENST00000510285.1"
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8078-311T>C",
"hgvs_p": null,
"transcript": "ENST00000942338.1",
"protein_id": "ENSP00000612397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2747,
"cds_start": null,
"cds_end": null,
"cds_length": 8244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942338.1"
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8456-311T>C",
"hgvs_p": null,
"transcript": "XM_005248269.5",
"protein_id": "XP_005248326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2873,
"cds_start": null,
"cds_end": null,
"cds_length": 8622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248269.5"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8456-311T>C",
"hgvs_p": null,
"transcript": "XM_011513992.3",
"protein_id": "XP_011512294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2873,
"cds_start": null,
"cds_end": null,
"cds_length": 8622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513992.3"
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8456-311T>C",
"hgvs_p": null,
"transcript": "XM_011513993.3",
"protein_id": "XP_011512295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2873,
"cds_start": null,
"cds_end": null,
"cds_length": 8622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513993.3"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8420-311T>C",
"hgvs_p": null,
"transcript": "XM_011513994.3",
"protein_id": "XP_011512296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2861,
"cds_start": null,
"cds_end": null,
"cds_length": 8586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513994.3"
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.8180-311T>C",
"hgvs_p": null,
"transcript": "XM_011513996.3",
"protein_id": "XP_011512298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2781,
"cds_start": null,
"cds_end": null,
"cds_length": 8346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513996.3"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.7463-311T>C",
"hgvs_p": null,
"transcript": "XM_006714460.3",
"protein_id": "XP_006714523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2542,
"cds_start": null,
"cds_end": null,
"cds_length": 7629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714460.3"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "c.7427-311T>C",
"hgvs_p": null,
"transcript": "XM_047416965.1",
"protein_id": "XP_047272921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2530,
"cds_start": null,
"cds_end": null,
"cds_length": 7593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374711",
"gene_hgnc_id": null,
"hgvs_c": "n.313A>G",
"hgvs_p": null,
"transcript": "XR_007058715.1",
"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": "XR_007058715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374711",
"gene_hgnc_id": null,
"hgvs_c": "n.534A>G",
"hgvs_p": null,
"transcript": "XR_007058716.1",
"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": "XR_007058716.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250764",
"gene_hgnc_id": null,
"hgvs_c": "n.168-1156A>G",
"hgvs_p": null,
"transcript": "ENST00000503441.1",
"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": "ENST00000503441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "n.1926-311T>C",
"hgvs_p": null,
"transcript": "ENST00000513490.1",
"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": "ENST00000513490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"hgvs_c": "n.276-311T>C",
"hgvs_p": null,
"transcript": "ENST00000515115.5",
"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": "ENST00000515115.5"
}
],
"gene_symbol": "PDZD2",
"gene_hgnc_id": 18486,
"dbsnp": "rs161522",
"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": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.141,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_178140.4",
"gene_symbol": "PDZD2",
"hgnc_id": 18486,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8354-311T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007058715.1",
"gene_symbol": "LOC105374711",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313A>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000503441.1",
"gene_symbol": "ENSG00000250764",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.168-1156A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}