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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: 10-84214556-ACTCTGAT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84214556&ref=ACTCTGAT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84214556,
"ref": "ACTCTGAT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_033100.4",
"consequences": [
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2522_2528delTCTCTGA",
"hgvs_p": "p.Ile841fs",
"transcript": "NM_033100.4",
"protein_id": "NP_149091.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 859,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000623527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033100.4"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2522_2528delTCTCTGA",
"hgvs_p": "p.Ile841fs",
"transcript": "ENST00000623527.4",
"protein_id": "ENSP00000485478.1",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 859,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033100.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623527.4"
},
{
"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": 16,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2040+1215_2040+1221delTCTCTGA",
"hgvs_p": null,
"transcript": "ENST00000332904.7",
"protein_id": "ENSP00000331063.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332904.7"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2471_2477delTCTCTGA",
"hgvs_p": "p.Ile824fs",
"transcript": "ENST00000926454.1",
"protein_id": "ENSP00000596513.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 842,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926454.1"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2378_2384delTCTCTGA",
"hgvs_p": "p.Ile793fs",
"transcript": "ENST00000926453.1",
"protein_id": "ENSP00000596512.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 811,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926453.1"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2213_2219delTCTCTGA",
"hgvs_p": "p.Ile738fs",
"transcript": "ENST00000852959.1",
"protein_id": "ENSP00000523018.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 756,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852959.1"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1736_1742delTCTCTGA",
"hgvs_p": "p.Ile579fs",
"transcript": "ENST00000372117.6",
"protein_id": "ENSP00000361189.4",
"transcript_support_level": 2,
"aa_start": 579,
"aa_end": null,
"aa_length": 597,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372117.6"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2696_2702delTCTCTGA",
"hgvs_p": "p.Ile899fs",
"transcript": "XM_011540337.2",
"protein_id": "XP_011538639.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 917,
"cds_start": 2696,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540337.2"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2075_2081delTCTCTGA",
"hgvs_p": "p.Ile692fs",
"transcript": "XM_011540339.2",
"protein_id": "XP_011538641.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 710,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540339.2"
},
{
"aa_ref": "ISE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.1799_1805delTCTCTGA",
"hgvs_p": "p.Ile600fs",
"transcript": "XM_047425997.1",
"protein_id": "XP_047281953.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 618,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425997.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2040+1215_2040+1221delTCTCTGA",
"hgvs_p": null,
"transcript": "NM_001171971.3",
"protein_id": "NP_001165442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171971.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.210+1215_210+1221delTCTCTGA",
"hgvs_p": null,
"transcript": "ENST00000623399.1",
"protein_id": "ENSP00000485245.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623399.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.2214+1215_2214+1221delTCTCTGA",
"hgvs_p": null,
"transcript": "XM_011540338.2",
"protein_id": "XP_011538640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540338.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "n.954_960delTCTCTGA",
"hgvs_p": null,
"transcript": "ENST00000459673.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000459673.1"
}
],
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"dbsnp": "rs794727197",
"frequency_reference_population": 0.000014989807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000144921,
"gnomad_genomes_af": 0.0000197337,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_033100.4",
"gene_symbol": "CDHR1",
"hgnc_id": 14550,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2522_2528delTCTCTGA",
"hgvs_p": "p.Ile841fs"
}
],
"clinvar_disease": " 5, retinal,Cone dystrophy,Cone-rod dystrophy 15,Macular dystrophy,Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 65,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 LP:4 US:1",
"phenotype_combined": "Retinitis pigmentosa|Retinal dystrophy|Cone dystrophy|Retinitis pigmentosa 65|not provided|Cone-rod dystrophy 15|Macular dystrophy, retinal, 5",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}