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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: 4-185502356-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185502356&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 185502356,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000284767.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Ala345Pro",
"transcript": "NM_014476.6",
"protein_id": "NP_055291.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 364,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "ENST00000284767.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Ala345Pro",
"transcript": "ENST00000284767.12",
"protein_id": "ENSP00000284767.8",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 364,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "NM_014476.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Ala297Pro",
"transcript": "ENST00000284771.7",
"protein_id": "ENSP00000284771.6",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 316,
"cds_start": 889,
"cds_end": null,
"cds_length": 951,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Ala178Pro",
"transcript": "ENST00000284770.10",
"protein_id": "ENSP00000284770.5",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 197,
"cds_start": 532,
"cds_end": null,
"cds_length": 594,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "n.4532G>C",
"hgvs_p": null,
"transcript": "ENST00000514142.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.889G>C",
"hgvs_p": "p.Ala297Pro",
"transcript": "NM_001114107.5",
"protein_id": "NP_001107579.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 316,
"cds_start": 889,
"cds_end": null,
"cds_length": 951,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "NM_001257962.2",
"protein_id": "NP_001244891.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 276,
"cds_start": 769,
"cds_end": null,
"cds_length": 831,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Ala257Pro",
"transcript": "ENST00000620787.5",
"protein_id": "ENSP00000481771.2",
"transcript_support_level": 4,
"aa_start": 257,
"aa_end": null,
"aa_length": 276,
"cds_start": 769,
"cds_end": null,
"cds_length": 831,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "c.532G>C",
"hgvs_p": "p.Ala178Pro",
"transcript": "NM_001257963.2",
"protein_id": "NP_001244892.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 197,
"cds_start": 532,
"cds_end": null,
"cds_length": 594,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "n.806G>C",
"hgvs_p": null,
"transcript": "ENST00000514308.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "n.*1077G>C",
"hgvs_p": null,
"transcript": "ENST00000643009.1",
"protein_id": "ENSP00000495411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "n.774G>C",
"hgvs_p": null,
"transcript": "NR_047562.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"hgvs_c": "n.*1077G>C",
"hgvs_p": null,
"transcript": "ENST00000643009.1",
"protein_id": "ENSP00000495411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000249679",
"gene_hgnc_id": null,
"hgvs_c": "n.552-437C>G",
"hgvs_p": null,
"transcript": "ENST00000669100.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000249679",
"gene_hgnc_id": null,
"hgvs_c": "n.518-4145C>G",
"hgvs_p": null,
"transcript": "ENST00000671042.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000249679",
"gene_hgnc_id": null,
"hgvs_c": "n.513+17348C>G",
"hgvs_p": null,
"transcript": "ENST00000725791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000249679",
"gene_hgnc_id": null,
"hgvs_c": "n.483-4145C>G",
"hgvs_p": null,
"transcript": "ENST00000725792.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000249679",
"gene_hgnc_id": null,
"hgvs_c": "n.522-2146C>G",
"hgvs_p": null,
"transcript": "ENST00000725793.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDLIM3",
"gene_hgnc_id": 20767,
"dbsnp": "rs373408599",
"frequency_reference_population": 0.0000018584827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000656478,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8876980543136597,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.628,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000284767.12",
"gene_symbol": "PDLIM3",
"hgnc_id": 20767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Ala345Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000669100.1",
"gene_symbol": "ENSG00000249679",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.552-437C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Hypertrophic cardiomyopathy,Primary dilated cardiomyopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Primary dilated cardiomyopathy;Hypertrophic cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}