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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: 3-120633254-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=120633254&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HGD",
"hgnc_id": 4892,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Arg",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000187.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 11,
"allele_count_reference_population": 51,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9404,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Alkaptonuria",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9942008256912231,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000187.4",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283871.10",
"protein_coding": true,
"protein_id": "NP_000178.2",
"strand": false,
"transcript": "NM_000187.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000283871.10",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000187.4",
"protein_coding": true,
"protein_id": "ENSP00000283871.5",
"strand": false,
"transcript": "ENST00000283871.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 499,
"aa_ref": "G",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000898838.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Gly415Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568897.1",
"strand": false,
"transcript": "ENST00000898838.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 452,
"aa_ref": "G",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898833.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Gly368Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568892.1",
"strand": false,
"transcript": "ENST00000898833.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898830.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568889.1",
"strand": false,
"transcript": "ENST00000898830.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "G",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898840.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Gly357Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568899.1",
"strand": false,
"transcript": "ENST00000898840.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "G",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898835.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568894.1",
"strand": false,
"transcript": "ENST00000898835.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 419,
"aa_ref": "G",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898841.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Gly335Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568900.1",
"strand": false,
"transcript": "ENST00000898841.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 419,
"aa_ref": "G",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000955340.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Gly335Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625399.1",
"strand": false,
"transcript": "ENST00000955340.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 377,
"aa_ref": "G",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1134,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898842.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568901.1",
"strand": false,
"transcript": "ENST00000898842.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 370,
"aa_ref": "G",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1113,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898831.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568890.1",
"strand": false,
"transcript": "ENST00000898831.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1107,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898834.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Gly284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568893.1",
"strand": false,
"transcript": "ENST00000898834.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 356,
"aa_ref": "G",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1071,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000898844.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568903.1",
"strand": false,
"transcript": "ENST00000898844.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 864,
"cds_end": null,
"cds_length": 981,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000898839.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568898.1",
"strand": false,
"transcript": "ENST00000898839.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 370,
"aa_ref": "G",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1113,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005247412.3",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247469.1",
"strand": false,
"transcript": "XM_005247412.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 915,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017006277.3",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861766.1",
"strand": false,
"transcript": "XM_017006277.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898832.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.880-4725G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568891.1",
"strand": false,
"transcript": "ENST00000898832.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898836.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.874-4725G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568895.1",
"strand": false,
"transcript": "ENST00000898836.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1159,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898837.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.655-4725G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568896.1",
"strand": false,
"transcript": "ENST00000898837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1005,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898843.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "c.550-4725G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568902.1",
"strand": false,
"transcript": "ENST00000898843.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000470321.1",
"gene_hgnc_id": 4892,
"gene_symbol": "HGD",
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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