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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: 4-94584441-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=94584441&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 94584441,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000317968.9",
"consequences": [
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "n.41A>T",
"hgvs_p": null,
"transcript": "ENST00000380176.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.711-1124A>T",
"hgvs_p": null,
"transcript": "NM_006457.5",
"protein_id": "NP_006448.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": -4,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "ENST00000317968.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.711-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000317968.9",
"protein_id": "ENSP00000321746.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": -4,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": "NM_006457.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "ENST00000615540.4",
"protein_id": "ENSP00000480359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000542407.5",
"protein_id": "ENSP00000442187.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "ENST00000380180.7",
"protein_id": "ENSP00000369527.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.324-545A>T",
"hgvs_p": null,
"transcript": "ENST00000318007.9",
"protein_id": "ENSP00000322021.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "NM_001256426.2",
"protein_id": "NP_001243355.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "ENST00000514743.5",
"protein_id": "ENSP00000424360.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-1124A>T",
"hgvs_p": null,
"transcript": "NM_001011513.4",
"protein_id": "NP_001011513.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "NM_001256427.2",
"protein_id": "NP_001243356.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "ENST00000503974.5",
"protein_id": "ENSP00000424297.1",
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"aa_start": null,
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"aa_length": 483,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.345-1124A>T",
"hgvs_p": null,
"transcript": "NM_001256428.2",
"protein_id": "NP_001243357.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 1425,
"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.-265-1124A>T",
"hgvs_p": null,
"transcript": "NM_001256425.2",
"protein_id": "NP_001243354.2",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.-265-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000437932.5",
"protein_id": "ENSP00000398469.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "NM_001011515.3",
"protein_id": "NP_001011515.1",
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},
{
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],
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "PDLIM5",
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"hgvs_c": "c.384-545A>T",
"hgvs_p": null,
"transcript": "ENST00000508216.5",
"protein_id": "ENSP00000426804.1",
"transcript_support_level": 2,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.324-545A>T",
"hgvs_p": null,
"transcript": "NM_001011516.3",
"protein_id": "NP_001011516.1",
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"aa_start": null,
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"aa_length": 214,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.285-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000513341.5",
"protein_id": "ENSP00000429577.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "PDLIM5",
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"hgvs_c": "n.196-1124A>T",
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"transcript": "ENST00000509357.5",
"protein_id": "ENSP00000422833.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "n.150-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000511586.5",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "n.*439-1124A>T",
"hgvs_p": null,
"transcript": "ENST00000627587.2",
"protein_id": "ENSP00000486938.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"dbsnp": "rs7682375",
"frequency_reference_population": 0.25205097,
"hom_count_reference_population": 5395,
"allele_count_reference_population": 38343,
"gnomad_exomes_af": 0.25,
"gnomad_genomes_af": 0.252051,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 38335,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 5395,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.201,
"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": "ENST00000317968.9",
"gene_symbol": "PDLIM5",
"hgnc_id": 17468,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.711-1124A>T",
"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
}