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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: 13-60096113-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=60096113&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 60096113,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000400324.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "NM_001042517.2",
"protein_id": "NP_001035982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000400324.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "ENST00000400324.9",
"protein_id": "ENSP00000383178.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_001042517.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.358-2381G>T",
"hgvs_p": null,
"transcript": "ENST00000377908.6",
"protein_id": "ENSP00000367141.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": -4,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.357+15897G>T",
"hgvs_p": null,
"transcript": "ENST00000400320.5",
"protein_id": "ENSP00000383174.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": -4,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.181-2381G>T",
"hgvs_p": null,
"transcript": "ENST00000400319.5",
"protein_id": "ENSP00000383173.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "ENST00000267215.8",
"protein_id": "ENSP00000267215.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": -4,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.358-2381G>T",
"hgvs_p": null,
"transcript": "NM_001258366.2",
"protein_id": "NP_001245295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": -4,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.357+15897G>T",
"hgvs_p": null,
"transcript": "NM_001258367.2",
"protein_id": "NP_001245296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": -4,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.181-2381G>T",
"hgvs_p": null,
"transcript": "NM_001258368.2",
"protein_id": "NP_001245297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "NM_001258369.2",
"protein_id": "NP_001245298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": -4,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "XM_024449422.1",
"protein_id": "XP_024305190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": -4,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
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"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "XM_011535258.3",
"protein_id": "XP_011533560.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "XM_011535263.3",
"protein_id": "XP_011533565.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 737,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.358-2381G>T",
"hgvs_p": null,
"transcript": "XM_047430701.1",
"protein_id": "XP_047286657.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 3,
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"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "XM_011535265.3",
"protein_id": "XP_011533567.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "c.391-2381G>T",
"hgvs_p": null,
"transcript": "XM_017020789.1",
"protein_id": "XP_016876278.1",
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},
{
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"protein_coding": false,
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"intron_variant"
],
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"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.553-2381G>T",
"hgvs_p": null,
"transcript": "XR_001749694.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.553-2381G>T",
"hgvs_p": null,
"transcript": "XR_002957477.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 3,
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"gene_symbol": "DIAPH3",
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"hgvs_c": "n.553-2381G>T",
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"transcript": "XR_002957478.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.553-2381G>T",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"hgvs_c": "n.553-2381G>T",
"hgvs_p": null,
"transcript": "XR_941672.1",
"protein_id": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "DIAPH3",
"gene_hgnc_id": 15480,
"dbsnp": "rs10507647",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.031,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000400324.9",
"gene_symbol": "DIAPH3",
"hgnc_id": 15480,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.391-2381G>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
}