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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: 12-50086795-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50086795&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50086795,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "ENST00000394963.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "NM_003076.5",
"protein_id": "NP_003067.3",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 515,
"cds_start": 450,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": "ENST00000394963.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "ENST00000394963.9",
"protein_id": "ENSP00000378414.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 515,
"cds_start": 450,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": "NM_003076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "ENST00000381513.8",
"protein_id": "ENSP00000370924.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 474,
"cds_start": 450,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "ENST00000547247.5",
"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": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "NM_139071.3",
"protein_id": "NP_620710.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 474,
"cds_start": 450,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "ENST00000550477.5",
"protein_id": "ENSP00000448030.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 288,
"cds_start": 450,
"cds_end": null,
"cds_length": 869,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "ENST00000551966.5",
"protein_id": "ENSP00000447386.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 277,
"cds_start": 450,
"cds_end": null,
"cds_length": 836,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.263dupT",
"hgvs_p": "p.Ala90fs",
"transcript": "ENST00000551497.1",
"protein_id": "ENSP00000449825.1",
"transcript_support_level": 4,
"aa_start": 88,
"aa_end": null,
"aa_length": 112,
"cds_start": 264,
"cds_end": null,
"cds_length": 339,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "XM_005269107.5",
"protein_id": "XP_005269164.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 474,
"cds_start": 450,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "XM_047429450.1",
"protein_id": "XP_047285406.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 433,
"cds_start": 450,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs",
"transcript": "XM_011538695.3",
"protein_id": "XP_011536997.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 265,
"cds_start": 450,
"cds_end": null,
"cds_length": 798,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.466dupT",
"hgvs_p": null,
"transcript": "ENST00000547637.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_007063118.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_007063119.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_007063120.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_007063121.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_944683.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"hgvs_c": "n.477dupT",
"hgvs_p": null,
"transcript": "XR_944684.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCD1",
"gene_hgnc_id": 11106,
"dbsnp": null,
"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": 0.07000000029802322,
"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": 7.941,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394963.9",
"gene_symbol": "SMARCD1",
"hgnc_id": 11106,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.449dupT",
"hgvs_p": "p.Ala152fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}