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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: 13-23809899-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23809899&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MIPEP",
"hgnc_id": 7104,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005932.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 68,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2869,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8022812604904175,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_005932.4",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382172.4",
"protein_coding": true,
"protein_id": "NP_005923.3",
"strand": false,
"transcript": "NM_005932.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000382172.4",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005932.4",
"protein_coding": true,
"protein_id": "ENSP00000371607.3",
"strand": false,
"transcript": "ENST00000382172.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000906723.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576782.1",
"strand": false,
"transcript": "ENST00000906723.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906727.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Arg534His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576786.1",
"strand": false,
"transcript": "ENST00000906727.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000906724.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576783.1",
"strand": false,
"transcript": "ENST00000906724.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1711,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000906725.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576784.1",
"strand": false,
"transcript": "ENST00000906725.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000906729.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576788.1",
"strand": false,
"transcript": "ENST00000906729.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969551.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639610.1",
"strand": false,
"transcript": "ENST00000969551.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000906730.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1394G>A",
"hgvs_p": "p.Arg465His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576789.1",
"strand": false,
"transcript": "ENST00000906730.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906726.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576785.1",
"strand": false,
"transcript": "ENST00000906726.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011535097.3",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533399.1",
"strand": false,
"transcript": "XM_011535097.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011535098.4",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533400.1",
"strand": false,
"transcript": "XM_011535098.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047430368.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286324.1",
"strand": false,
"transcript": "XM_047430368.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 648,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906728.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1653+26341G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576787.1",
"strand": false,
"transcript": "ENST00000906728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969552.1",
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"hgvs_c": "c.1614+26341G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639611.1",
"strand": false,
"transcript": "ENST00000969552.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs753252850",
"effect": "missense_variant",
"frequency_reference_population": 0.00004215324,
"gene_hgnc_id": 7104,
"gene_symbol": "MIPEP",
"gnomad_exomes_ac": 65,
"gnomad_exomes_af": 0.0000444861,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197327,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome|not provided|Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.317,
"pos": 23809899,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.31,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.1,
"transcript": "NM_005932.4"
}
]
}