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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: 11-75797175-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75797175&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75797175,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032564.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp",
"transcript": "NM_032564.5",
"protein_id": "NP_115953.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 388,
"cds_start": 652,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228027.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032564.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp",
"transcript": "ENST00000228027.12",
"protein_id": "ENSP00000228027.6",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 388,
"cds_start": 652,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032564.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228027.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000376262.7",
"protein_id": "ENSP00000365438.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 345,
"cds_start": 523,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376262.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Trp",
"transcript": "ENST00000604733.5",
"protein_id": "ENSP00000474668.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 294,
"cds_start": 514,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604733.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241Trp",
"transcript": "ENST00000877418.1",
"protein_id": "ENSP00000547477.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 411,
"cds_start": 721,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877418.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Trp",
"transcript": "ENST00000877419.1",
"protein_id": "ENSP00000547478.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 399,
"cds_start": 685,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877419.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Trp",
"transcript": "ENST00000960982.1",
"protein_id": "ENSP00000631041.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 398,
"cds_start": 682,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960982.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp",
"transcript": "ENST00000877421.1",
"protein_id": "ENSP00000547480.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 395,
"cds_start": 652,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877421.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "ENST00000877420.1",
"protein_id": "ENSP00000547479.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 387,
"cds_start": 649,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877420.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "NM_001253891.2",
"protein_id": "NP_001240820.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 345,
"cds_start": 523,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253891.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000603276.5",
"protein_id": "ENSP00000474015.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 159,
"cds_start": 379,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603276.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "XM_011545304.3",
"protein_id": "XP_011543606.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 358,
"cds_start": 562,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545304.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "XM_047427716.1",
"protein_id": "XP_047283672.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 297,
"cds_start": 379,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "n.4392C>T",
"hgvs_p": null,
"transcript": "ENST00000603363.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000603363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"hgvs_c": "n.2039C>T",
"hgvs_p": null,
"transcript": "ENST00000603865.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000603865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UVRAG-DT",
"gene_hgnc_id": null,
"hgvs_c": "n.1243-535G>A",
"hgvs_p": null,
"transcript": "ENST00000716206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000716206.1"
}
],
"gene_symbol": "DGAT2",
"gene_hgnc_id": 16940,
"dbsnp": "rs528376420",
"frequency_reference_population": 0.000008674844,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000668429,
"gnomad_genomes_af": 0.0000262905,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.783859372138977,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.322,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.346,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032564.5",
"gene_symbol": "DGAT2",
"hgnc_id": 16940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000716206.1",
"gene_symbol": "UVRAG-DT",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1243-535G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}