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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: 1-186312866-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=186312866&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRG4",
"hgnc_id": 9364,
"hgvs_c": "c.4089C>A",
"hgvs_p": "p.Asp1363Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005807.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TPR",
"hgnc_id": 12017,
"hgvs_c": "c.*1105G>T",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003292.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6398,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14880192279815674,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "D",
"aa_start": 1363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 4215,
"cds_start": 4089,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_005807.6",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4089C>A",
"hgvs_p": "p.Asp1363Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000445192.7",
"protein_coding": true,
"protein_id": "NP_005798.3",
"strand": true,
"transcript": "NM_005807.6",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "D",
"aa_start": 1363,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 4215,
"cds_start": 4089,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000445192.7",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4089C>A",
"hgvs_p": "p.Asp1363Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005807.6",
"protein_coding": true,
"protein_id": "ENSP00000399679.3",
"strand": true,
"transcript": "ENST00000445192.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9636,
"cdna_start": null,
"cds_end": null,
"cds_length": 7092,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "NM_003292.3",
"gene_hgnc_id": 12017,
"gene_symbol": "TPR",
"hgvs_c": "c.*1105G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367478.9",
"protein_coding": true,
"protein_id": "NP_003283.2",
"strand": false,
"transcript": "NM_003292.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2363,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9636,
"cdna_start": null,
"cds_end": null,
"cds_length": 7092,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 51,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "ENST00000367478.9",
"gene_hgnc_id": 12017,
"gene_symbol": "TPR",
"hgvs_c": "c.*1105G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003292.3",
"protein_coding": true,
"protein_id": "ENSP00000356448.3",
"strand": false,
"transcript": "ENST00000367478.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "D",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": 4017,
"cds_end": null,
"cds_length": 4092,
"cds_start": 3966,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001127708.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3966C>A",
"hgvs_p": "p.Asp1322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121180.2",
"strand": true,
"transcript": "NM_001127708.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "D",
"aa_start": 1322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 4011,
"cds_end": null,
"cds_length": 4092,
"cds_start": 3966,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000367483.8",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3966C>A",
"hgvs_p": "p.Asp1322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356453.4",
"strand": true,
"transcript": "ENST00000367483.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "D",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4926,
"cdna_start": 4011,
"cds_end": null,
"cds_length": 4086,
"cds_start": 3960,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001303232.2",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3960C>A",
"hgvs_p": "p.Asp1320Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290161.1",
"strand": true,
"transcript": "NM_001303232.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "D",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4915,
"cdna_start": 4005,
"cds_end": null,
"cds_length": 4086,
"cds_start": 3960,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000635041.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3960C>A",
"hgvs_p": "p.Asp1320Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489292.1",
"strand": true,
"transcript": "ENST00000635041.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "D",
"aa_start": 1270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4776,
"cdna_start": 3861,
"cds_end": null,
"cds_length": 3936,
"cds_start": 3810,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001127709.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3810C>A",
"hgvs_p": "p.Asp1270Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121181.2",
"strand": true,
"transcript": "NM_001127709.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "D",
"aa_start": 1270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 3936,
"cds_start": 3810,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000367485.4",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3810C>A",
"hgvs_p": "p.Asp1270Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356455.4",
"strand": true,
"transcript": "ENST00000367485.4",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "D",
"aa_start": 1229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 3738,
"cds_end": null,
"cds_length": 3813,
"cds_start": 3687,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001127710.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3687C>A",
"hgvs_p": "p.Asp1229Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121182.2",
"strand": true,
"transcript": "NM_001127710.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "D",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 3615,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3567,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862633.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3567C>A",
"hgvs_p": "p.Asp1189Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532692.1",
"strand": true,
"transcript": "ENST00000862633.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "D",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3546,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3516,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862630.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3516C>A",
"hgvs_p": "p.Asp1172Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532689.1",
"strand": true,
"transcript": "ENST00000862630.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 370,
"aa_ref": "D",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1113,
"cds_start": 987,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862632.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.987C>A",
"hgvs_p": "p.Asp329Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532691.1",
"strand": true,
"transcript": "ENST00000862632.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 330,
"aa_ref": "D",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 897,
"cds_end": null,
"cds_length": 993,
"cds_start": 867,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862634.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Asp289Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532693.1",
"strand": true,
"transcript": "ENST00000862634.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": 798,
"cds_end": null,
"cds_length": 870,
"cds_start": 744,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000862631.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.744C>A",
"hgvs_p": "p.Asp248Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532690.1",
"strand": true,
"transcript": "ENST00000862631.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 696,
"cds_end": null,
"cds_length": 792,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862635.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.666C>A",
"hgvs_p": "p.Asp222Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532694.1",
"strand": true,
"transcript": "ENST00000862635.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs145515394",
"effect": "missense_variant",
"frequency_reference_population": 6.848302e-7,
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8483e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.92,
"pos": 186312866,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.082,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005807.6"
}
]
}