← Back to variant description
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: 3-38110169-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38110169&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38110169,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007337.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "NM_007335.4",
"protein_id": "NP_031361.2",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1755,
"cds_start": 3331,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308059.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007335.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "ENST00000308059.11",
"protein_id": "ENSP00000308597.6",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1755,
"cds_start": 3331,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007335.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308059.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "ENST00000346219.7",
"protein_id": "ENSP00000315914.5",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1778,
"cds_start": 3331,
"cds_end": null,
"cds_length": 5337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346219.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys",
"transcript": "NM_007337.4",
"protein_id": "NP_031363.2",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1778,
"cds_start": 3331,
"cds_end": null,
"cds_length": 5337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007337.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "NM_001321153.2",
"protein_id": "NP_001308082.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1758,
"cds_start": 3340,
"cds_end": null,
"cds_length": 5277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321153.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "ENST00000896006.1",
"protein_id": "ENSP00000566065.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1758,
"cds_start": 3340,
"cds_end": null,
"cds_length": 5277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896006.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_011534317.3",
"protein_id": "XP_011532619.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3340,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534317.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_006713438.4",
"protein_id": "XP_006713501.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1727,
"cds_start": 3340,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713438.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3166C>T",
"hgvs_p": "p.Arg1056Cys",
"transcript": "XM_011534318.3",
"protein_id": "XP_011532620.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1723,
"cds_start": 3166,
"cds_end": null,
"cds_length": 5172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534318.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_006713439.4",
"protein_id": "XP_006713502.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713439.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_006713440.4",
"protein_id": "XP_006713503.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713440.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "XM_047449369.1",
"protein_id": "XP_047305325.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3340,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "c.*6C>T",
"hgvs_p": null,
"transcript": "XM_047449370.1",
"protein_id": "XP_047305326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": null,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449370.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "n.360C>T",
"hgvs_p": null,
"transcript": "ENST00000477260.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000477260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"hgvs_c": "n.3358C>T",
"hgvs_p": null,
"transcript": "XR_940527.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_940527.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ACAA1",
"gene_hgnc_id": 82,
"hgvs_c": "n.300-6376G>A",
"hgvs_p": null,
"transcript": "ENST00000451419.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000451419.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105377033",
"gene_hgnc_id": null,
"hgvs_c": "n.88-6376G>A",
"hgvs_p": null,
"transcript": "XR_940727.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_940727.3"
}
],
"gene_symbol": "DLEC1",
"gene_hgnc_id": 2899,
"dbsnp": "rs200013784",
"frequency_reference_population": 0.000072482355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000519883,
"gnomad_genomes_af": 0.00026917,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014303654432296753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.391,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_007337.4",
"gene_symbol": "DLEC1",
"hgnc_id": 2899,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3331C>T",
"hgvs_p": "p.Arg1111Cys"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000451419.1",
"gene_symbol": "ACAA1",
"hgnc_id": 82,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.300-6376G>A",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_940727.3",
"gene_symbol": "LOC105377033",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.88-6376G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}