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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: 14-74899026-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74899026&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74899026,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001933.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.901+527A>G",
"hgvs_p": null,
"transcript": "NM_001933.5",
"protein_id": "NP_001924.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334220.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001933.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.901+527A>G",
"hgvs_p": null,
"transcript": "ENST00000334220.9",
"protein_id": "ENSP00000335304.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001933.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334220.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "n.*530+527A>G",
"hgvs_p": null,
"transcript": "ENST00000555089.5",
"protein_id": "ENSP00000452422.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000555089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.898+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875051.1",
"protein_id": "ENSP00000545110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.889+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875057.1",
"protein_id": "ENSP00000545116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.886+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875050.1",
"protein_id": "ENSP00000545109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.901+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875056.1",
"protein_id": "ENSP00000545115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.871+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875061.1",
"protein_id": "ENSP00000545120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.865+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875049.1",
"protein_id": "ENSP00000545108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.856+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875058.1",
"protein_id": "ENSP00000545117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
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"cds_length": 1317,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875058.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.850+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875059.1",
"protein_id": "ENSP00000545118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
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"cds_length": 1311,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875059.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 10,
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"gene_symbol": "DLST",
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"hgvs_c": "c.826+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875054.1",
"protein_id": "ENSP00000545113.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000875054.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DLST",
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"hgvs_c": "c.811+527A>G",
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"transcript": "ENST00000875060.1",
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"cds_start": null,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "DLST",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.796+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875052.1",
"protein_id": "ENSP00000545111.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875052.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "DLST",
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"hgvs_c": "c.901+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875048.1",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "DLST",
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"hgvs_c": "c.733+527A>G",
"hgvs_p": null,
"transcript": "ENST00000875053.1",
"protein_id": "ENSP00000545112.1",
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"biotype": "protein_coding",
"feature": "ENST00000875053.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.352+527A>G",
"hgvs_p": null,
"transcript": "XM_047431065.1",
"protein_id": "XP_047287021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"hgvs_p": null,
"transcript": "ENST00000238671.11",
"protein_id": "ENSP00000238671.7",
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},
{
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"strand": true,
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],
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"gene_symbol": "DLST",
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"transcript": "ENST00000554612.5",
"protein_id": "ENSP00000451670.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000554612.5"
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "DLST",
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"transcript": "NR_033814.2",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033814.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "n.890+527A>G",
"hgvs_p": null,
"transcript": "NR_045209.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045209.2"
}
],
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"dbsnp": "rs732765",
"frequency_reference_population": 0.3194905,
"hom_count_reference_population": 9256,
"allele_count_reference_population": 48560,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.31949,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48560,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 9256,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.409,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001933.5",
"gene_symbol": "DLST",
"hgnc_id": 2911,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.901+527A>G",
"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
}