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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: 12-91146190-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=91146190&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 91146190,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000052754.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "NM_001920.5",
"protein_id": "NP_001911.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 359,
"cds_start": 947,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 6850,
"mane_select": "ENST00000052754.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "ENST00000052754.10",
"protein_id": "ENSP00000052754.5",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 359,
"cds_start": 947,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 6850,
"mane_select": "NM_001920.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.620delG",
"hgvs_p": "p.Gly207fs",
"transcript": "ENST00000420120.6",
"protein_id": "ENSP00000413723.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 250,
"cds_start": 620,
"cds_end": null,
"cds_length": 753,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.506delG",
"hgvs_p": "p.Gly169fs",
"transcript": "ENST00000425043.5",
"protein_id": "ENSP00000401021.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 212,
"cds_start": 506,
"cds_end": null,
"cds_length": 639,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.386delG",
"hgvs_p": "p.Gly129fs",
"transcript": "ENST00000441303.6",
"protein_id": "ENSP00000399815.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 172,
"cds_start": 386,
"cds_end": null,
"cds_length": 519,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "n.*600delG",
"hgvs_p": null,
"transcript": "ENST00000393155.6",
"protein_id": "ENSP00000376862.2",
"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": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "n.*600delG",
"hgvs_p": null,
"transcript": "ENST00000393155.6",
"protein_id": "ENSP00000376862.2",
"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": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "NM_133503.4",
"protein_id": "NP_598010.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 359,
"cds_start": 947,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs",
"transcript": "ENST00000552962.5",
"protein_id": "ENSP00000447654.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 359,
"cds_start": 947,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.620delG",
"hgvs_p": "p.Gly207fs",
"transcript": "NM_133504.3",
"protein_id": "NP_598011.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 250,
"cds_start": 620,
"cds_end": null,
"cds_length": 753,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.506delG",
"hgvs_p": "p.Gly169fs",
"transcript": "NM_133505.3",
"protein_id": "NP_598012.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 212,
"cds_start": 506,
"cds_end": null,
"cds_length": 639,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.506delG",
"hgvs_p": "p.Gly169fs",
"transcript": "ENST00000547568.6",
"protein_id": "ENSP00000447674.2",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 212,
"cds_start": 506,
"cds_end": null,
"cds_length": 639,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.506delG",
"hgvs_p": "p.Gly169fs",
"transcript": "ENST00000546391.5",
"protein_id": "ENSP00000446530.1",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 176,
"cds_start": 506,
"cds_end": null,
"cds_length": 531,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.386delG",
"hgvs_p": "p.Gly129fs",
"transcript": "NM_133506.3",
"protein_id": "NP_598013.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 172,
"cds_start": 386,
"cds_end": null,
"cds_length": 519,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.17delG",
"hgvs_p": "p.Gly6fs",
"transcript": "ENST00000548218.1",
"protein_id": "ENSP00000448853.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 51,
"cds_start": 17,
"cds_end": null,
"cds_length": 156,
"cdna_start": 18,
"cdna_end": null,
"cdna_length": 356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.*45delG",
"hgvs_p": null,
"transcript": "NM_133507.3",
"protein_id": "NP_598014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"hgvs_c": "c.*45delG",
"hgvs_p": null,
"transcript": "ENST00000456569.2",
"protein_id": "ENSP00000398514.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCN",
"gene_hgnc_id": 2705,
"dbsnp": "rs397515545",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.879,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000052754.10",
"gene_symbol": "DCN",
"hgnc_id": 2705,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.947delG",
"hgvs_p": "p.Gly316fs"
}
],
"clinvar_disease": "Congenital stromal corneal dystrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Congenital stromal corneal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}