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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: 1-186313753-CC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=186313753&ref=CC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PRG4",
"hgnc_id": 9364,
"hgvs_c": "c.4190_4191delCCinsAA",
"hgvs_p": "p.Ser1397*",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_005807.6",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TPR",
"hgnc_id": 12017,
"hgvs_c": "c.*217_*218delGGinsTT",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003292.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "S",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4235,
"cds_end": null,
"cds_length": 4215,
"cds_start": 4190,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005807.6",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4190_4191delCCinsAA",
"hgvs_p": "p.Ser1397*",
"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": "*",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "S",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 4235,
"cds_end": null,
"cds_length": 4215,
"cds_start": 4190,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445192.7",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4190_4191delCCinsAA",
"hgvs_p": "p.Ser1397*",
"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.*217_*218delGGinsTT",
"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.*217_*218delGGinsTT",
"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": "*",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "S",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 4092,
"cds_start": 4067,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127708.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4067_4068delCCinsAA",
"hgvs_p": "p.Ser1356*",
"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": "*",
"aa_end": null,
"aa_length": 1363,
"aa_ref": "S",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 4112,
"cds_end": null,
"cds_length": 4092,
"cds_start": 4067,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367483.8",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4067_4068delCCinsAA",
"hgvs_p": "p.Ser1356*",
"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": "*",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "S",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4926,
"cdna_start": 4112,
"cds_end": null,
"cds_length": 4086,
"cds_start": 4061,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001303232.2",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4061_4062delCCinsAA",
"hgvs_p": "p.Ser1354*",
"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": "*",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "S",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4915,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4086,
"cds_start": 4061,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635041.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.4061_4062delCCinsAA",
"hgvs_p": "p.Ser1354*",
"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": "*",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "S",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4776,
"cdna_start": 3962,
"cds_end": null,
"cds_length": 3936,
"cds_start": 3911,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127709.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3911_3912delCCinsAA",
"hgvs_p": "p.Ser1304*",
"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": "*",
"aa_end": null,
"aa_length": 1311,
"aa_ref": "S",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 3956,
"cds_end": null,
"cds_length": 3936,
"cds_start": 3911,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367485.4",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3911_3912delCCinsAA",
"hgvs_p": "p.Ser1304*",
"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": "*",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "S",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 3839,
"cds_end": null,
"cds_length": 3813,
"cds_start": 3788,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127710.3",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3788_3789delCCinsAA",
"hgvs_p": "p.Ser1263*",
"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": "*",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "S",
"aa_start": 1223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 3716,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3668,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862633.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3668_3669delCCinsAA",
"hgvs_p": "p.Ser1223*",
"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": "*",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "S",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3647,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3617,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862630.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.3617_3618delCCinsAA",
"hgvs_p": "p.Ser1206*",
"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": "*",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1088,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862632.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.1088_1089delCCinsAA",
"hgvs_p": "p.Ser363*",
"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": "*",
"aa_end": null,
"aa_length": 330,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 998,
"cds_end": null,
"cds_length": 993,
"cds_start": 968,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862634.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.968_969delCCinsAA",
"hgvs_p": "p.Ser323*",
"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": "*",
"aa_end": null,
"aa_length": 289,
"aa_ref": "S",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": 899,
"cds_end": null,
"cds_length": 870,
"cds_start": 845,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862631.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.845_846delCCinsAA",
"hgvs_p": "p.Ser282*",
"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": "*",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 797,
"cds_end": null,
"cds_length": 792,
"cds_start": 767,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862635.1",
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"hgvs_c": "c.767_768delCCinsAA",
"hgvs_p": "p.Ser256*",
"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": null,
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 9364,
"gene_symbol": "PRG4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Uncertain_significance",
"phylop100way_score": 5.689,
"pos": 186313753,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_005807.6"
}
]
}