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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: 3-4362223-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4362223&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUMF1",
"hgnc_id": 20376,
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Arg349Pro",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_182760.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9921,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Multiple sulfatase deficiency,Spinocerebellar ataxia type 15/16",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9743227958679199,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1125,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_182760.4",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Arg349Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272902.10",
"protein_coding": true,
"protein_id": "NP_877437.2",
"strand": false,
"transcript": "NM_182760.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1125,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000272902.10",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Arg349Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182760.4",
"protein_coding": true,
"protein_id": "ENSP00000272902.5",
"strand": false,
"transcript": "ENST00000272902.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1065,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000405420.2",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384977.2",
"strand": false,
"transcript": "ENST00000405420.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1146,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948922.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Arg356Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618981.1",
"strand": false,
"transcript": "ENST00000948922.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1071,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948921.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.992G>C",
"hgvs_p": "p.Arg331Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618980.1",
"strand": false,
"transcript": "ENST00000948921.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1065,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164675.2",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.986G>C",
"hgvs_p": "p.Arg329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158147.1",
"strand": false,
"transcript": "NM_001164675.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1050,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164674.2",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158146.1",
"strand": false,
"transcript": "NM_001164674.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1050,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000383843.9",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Arg324Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373355.5",
"strand": false,
"transcript": "ENST00000383843.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 934,
"cds_end": null,
"cds_length": 990,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933293.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.911G>C",
"hgvs_p": "p.Arg304Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603352.1",
"strand": false,
"transcript": "ENST00000933293.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 896,
"cds_end": null,
"cds_length": 951,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881802.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.872G>C",
"hgvs_p": "p.Arg291Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551861.1",
"strand": false,
"transcript": "ENST00000881802.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 821,
"cds_end": null,
"cds_length": 876,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881801.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.797G>C",
"hgvs_p": "p.Arg266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551860.1",
"strand": false,
"transcript": "ENST00000881801.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 267,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 753,
"cds_end": null,
"cds_length": 804,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881800.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551859.1",
"strand": false,
"transcript": "ENST00000881800.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 674,
"cds_end": null,
"cds_length": 729,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000458465.6",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410060.2",
"strand": false,
"transcript": "ENST00000458465.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 229,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 619,
"cds_end": null,
"cds_length": 690,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881803.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Arg204Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551862.1",
"strand": false,
"transcript": "ENST00000881803.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 568,
"cds_end": null,
"cds_length": 630,
"cds_start": 551,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948920.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.551G>C",
"hgvs_p": "p.Arg184Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618979.1",
"strand": false,
"transcript": "ENST00000948920.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 935,
"cds_end": null,
"cds_length": 990,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047448025.1",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.911G>C",
"hgvs_p": "p.Arg304Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303981.1",
"strand": false,
"transcript": "XM_047448025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 448,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533624.4",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1014+14107G>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531926.1",
"strand": false,
"transcript": "XM_011533624.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006252.3",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.954+48642G>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861741.1",
"strand": false,
"transcript": "XM_017006252.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006253.2",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.939+14107G>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861742.1",
"strand": false,
"transcript": "XM_017006253.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006254.3",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1014+14107G>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861743.1",
"strand": false,
"transcript": "XM_017006254.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533625.4",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1014+14107G>C",
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}