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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: 1-186313690-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=186313690&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 186313690,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005807.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.4127A>C",
"hgvs_p": "p.Tyr1376Ser",
"transcript": "NM_005807.6",
"protein_id": "NP_005798.3",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1404,
"cds_start": 4127,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445192.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005807.6"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.4127A>C",
"hgvs_p": "p.Tyr1376Ser",
"transcript": "ENST00000445192.7",
"protein_id": "ENSP00000399679.3",
"transcript_support_level": 5,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1404,
"cds_start": 4127,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005807.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445192.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPR",
"gene_hgnc_id": 12017,
"hgvs_c": "c.*281T>G",
"hgvs_p": null,
"transcript": "NM_003292.3",
"protein_id": "NP_003283.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2363,
"cds_start": null,
"cds_end": null,
"cds_length": 7092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367478.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003292.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPR",
"gene_hgnc_id": 12017,
"hgvs_c": "c.*281T>G",
"hgvs_p": null,
"transcript": "ENST00000367478.9",
"protein_id": "ENSP00000356448.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2363,
"cds_start": null,
"cds_end": null,
"cds_length": 7092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367478.9"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.4004A>C",
"hgvs_p": "p.Tyr1335Ser",
"transcript": "NM_001127708.3",
"protein_id": "NP_001121180.2",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1363,
"cds_start": 4004,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127708.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.4004A>C",
"hgvs_p": "p.Tyr1335Ser",
"transcript": "ENST00000367483.8",
"protein_id": "ENSP00000356453.4",
"transcript_support_level": 5,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1363,
"cds_start": 4004,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367483.8"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3998A>C",
"hgvs_p": "p.Tyr1333Ser",
"transcript": "NM_001303232.2",
"protein_id": "NP_001290161.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303232.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3998A>C",
"hgvs_p": "p.Tyr1333Ser",
"transcript": "ENST00000635041.1",
"protein_id": "ENSP00000489292.1",
"transcript_support_level": 5,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635041.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3848A>C",
"hgvs_p": "p.Tyr1283Ser",
"transcript": "NM_001127709.3",
"protein_id": "NP_001121181.2",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3848,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127709.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3848A>C",
"hgvs_p": "p.Tyr1283Ser",
"transcript": "ENST00000367485.4",
"protein_id": "ENSP00000356455.4",
"transcript_support_level": 5,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3848,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367485.4"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3725A>C",
"hgvs_p": "p.Tyr1242Ser",
"transcript": "NM_001127710.3",
"protein_id": "NP_001121182.2",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3725,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127710.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3605A>C",
"hgvs_p": "p.Tyr1202Ser",
"transcript": "ENST00000862633.1",
"protein_id": "ENSP00000532692.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3605,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862633.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.3554A>C",
"hgvs_p": "p.Tyr1185Ser",
"transcript": "ENST00000862630.1",
"protein_id": "ENSP00000532689.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862630.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.1025A>C",
"hgvs_p": "p.Tyr342Ser",
"transcript": "ENST00000862632.1",
"protein_id": "ENSP00000532691.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 370,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862632.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.905A>C",
"hgvs_p": "p.Tyr302Ser",
"transcript": "ENST00000862634.1",
"protein_id": "ENSP00000532693.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 330,
"cds_start": 905,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862634.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.782A>C",
"hgvs_p": "p.Tyr261Ser",
"transcript": "ENST00000862631.1",
"protein_id": "ENSP00000532690.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 289,
"cds_start": 782,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862631.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Tyr235Ser",
"transcript": "ENST00000862635.1",
"protein_id": "ENSP00000532694.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 263,
"cds_start": 704,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862635.1"
}
],
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"dbsnp": "rs562730445",
"frequency_reference_population": 6.926637e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.92664e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8000746965408325,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8201,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.709,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005807.6",
"gene_symbol": "PRG4",
"hgnc_id": 9364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4127A>C",
"hgvs_p": "p.Tyr1376Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003292.3",
"gene_symbol": "TPR",
"hgnc_id": 12017,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.*281T>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
}