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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: 4-82427465-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=82427465&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": "HNRNPDL",
"hgnc_id": 5037,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_031372.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9292,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal dominant limb-girdle muscular dystrophy type 1G",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7536674737930298,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031372.4",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295470.10",
"protein_coding": true,
"protein_id": "NP_112740.1",
"strand": false,
"transcript": "NM_031372.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000295470.10",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031372.4",
"protein_coding": true,
"protein_id": "ENSP00000295470.5",
"strand": false,
"transcript": "ENST00000295470.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000621267.4",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483254.1",
"strand": false,
"transcript": "ENST00000621267.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 363,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1092,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000614627.4",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478723.1",
"strand": false,
"transcript": "ENST00000614627.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 301,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 581,
"cds_end": null,
"cds_length": 906,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507721.5",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Glu173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480156.1",
"strand": false,
"transcript": "ENST00000507721.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 301,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 625,
"cds_end": null,
"cds_length": 906,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000602300.5",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Glu173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473677.1",
"strand": false,
"transcript": "ENST00000602300.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000349655.8",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.517G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000338552.5",
"strand": false,
"transcript": "ENST00000349655.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000502762.4",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.874G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422040.1",
"strand": false,
"transcript": "ENST00000502762.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880337.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550396.1",
"strand": false,
"transcript": "ENST00000880337.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880338.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550397.1",
"strand": false,
"transcript": "ENST00000880338.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918642.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588701.1",
"strand": false,
"transcript": "ENST00000918642.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 420,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1263,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958842.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628901.1",
"strand": false,
"transcript": "ENST00000958842.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 419,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1260,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918643.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588702.1",
"strand": false,
"transcript": "ENST00000918643.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 363,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1092,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001207000.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193929.1",
"strand": false,
"transcript": "NM_001207000.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 363,
"aa_ref": "E",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1092,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880339.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550398.1",
"strand": false,
"transcript": "ENST00000880339.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 301,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 654,
"cds_end": null,
"cds_length": 906,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000630827.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Glu173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485954.1",
"strand": false,
"transcript": "ENST00000630827.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": null,
"cds_end": null,
"cds_length": 1131,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918644.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "c.775-161G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588703.1",
"strand": false,
"transcript": "ENST00000918644.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000514511.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.*12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478269.1",
"strand": false,
"transcript": "ENST00000514511.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000630114.2",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.517G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000486452.1",
"strand": false,
"transcript": "ENST00000630114.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_003249.2",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.1409G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_003249.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000514511.1",
"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
"hgvs_c": "n.*12G>A",
"hgvs_p": null,
"intron_rank": null,
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"protein_coding": false,
"protein_id": "ENSP00000478269.1",
"strand": false,
"transcript": "ENST00000514511.1",
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs1553900899",
"effect": "missense_variant",
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"gene_hgnc_id": 5037,
"gene_symbol": "HNRNPDL",
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Autosomal dominant limb-girdle muscular dystrophy type 1G",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.553,
"pos": 82427465,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.616,
"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_031372.4"
}
]
}