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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: 1-244705656-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244705656&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244705656,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016076.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "NM_016076.5",
"protein_id": "NP_057160.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 194,
"cds_start": 452,
"cds_end": null,
"cds_length": 585,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000302550.16",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016076.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg",
"transcript": "ENST00000302550.16",
"protein_id": "ENSP00000306528.11",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 194,
"cds_start": 452,
"cds_end": null,
"cds_length": 585,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_016076.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302550.16"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.353C>G",
"hgvs_p": "p.Thr118Arg",
"transcript": "ENST00000263831.11",
"protein_id": "ENSP00000263831.7",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 161,
"cds_start": 353,
"cds_end": null,
"cds_length": 486,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263831.11"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Thr171Arg",
"transcript": "ENST00000859654.1",
"protein_id": "ENSP00000529713.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 214,
"cds_start": 512,
"cds_end": null,
"cds_length": 645,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859654.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.413C>G",
"hgvs_p": "p.Thr138Arg",
"transcript": "ENST00000967560.1",
"protein_id": "ENSP00000637619.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 181,
"cds_start": 413,
"cds_end": null,
"cds_length": 546,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967560.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Thr119Arg",
"transcript": "ENST00000859653.1",
"protein_id": "ENSP00000529712.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 162,
"cds_start": 356,
"cds_end": null,
"cds_length": 489,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859653.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.353C>G",
"hgvs_p": "p.Thr118Arg",
"transcript": "NM_001297746.2",
"protein_id": "NP_001284675.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 161,
"cds_start": 353,
"cds_end": null,
"cds_length": 486,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297746.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Thr48Arg",
"transcript": "ENST00000930300.1",
"protein_id": "ENSP00000600359.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 91,
"cds_start": 143,
"cds_end": null,
"cds_length": 276,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930300.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Thr168Arg",
"transcript": "XM_011544203.4",
"protein_id": "XP_011542505.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 211,
"cds_start": 503,
"cds_end": null,
"cds_length": 636,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544203.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.431C>G",
"hgvs_p": "p.Thr144Arg",
"transcript": "XM_011544205.4",
"protein_id": "XP_011542507.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 187,
"cds_start": 431,
"cds_end": null,
"cds_length": 564,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544205.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Thr135Arg",
"transcript": "XM_011544206.4",
"protein_id": "XP_011542508.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 178,
"cds_start": 404,
"cds_end": null,
"cds_length": 537,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544206.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "c.332C>G",
"hgvs_p": "p.Thr111Arg",
"transcript": "XM_011544207.3",
"protein_id": "XP_011542509.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 154,
"cds_start": 332,
"cds_end": null,
"cds_length": 465,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544207.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000301033",
"gene_hgnc_id": null,
"hgvs_c": "n.301G>C",
"hgvs_p": null,
"transcript": "ENST00000775677.1",
"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": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301033",
"gene_hgnc_id": null,
"hgvs_c": "n.268G>C",
"hgvs_p": null,
"transcript": "ENST00000775678.1",
"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": 765,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "n.635C>G",
"hgvs_p": null,
"transcript": "NR_123735.2",
"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": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_123735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "NR_123736.2",
"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": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_123736.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"hgvs_c": "n.696C>G",
"hgvs_p": null,
"transcript": "XR_001737208.3",
"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": 4073,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737208.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301033",
"gene_hgnc_id": null,
"hgvs_c": "n.162-10006G>C",
"hgvs_p": null,
"transcript": "ENST00000775676.1",
"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": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775676.1"
}
],
"gene_symbol": "DESI2",
"gene_hgnc_id": 24264,
"dbsnp": "rs775374082",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7687404155731201,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.433,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.84,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016076.5",
"gene_symbol": "DESI2",
"hgnc_id": 24264,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Thr151Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000775677.1",
"gene_symbol": "ENSG00000301033",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.301G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}