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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: 5-176295144-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176295144&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176295144,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001308195.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "NM_001308195.2",
"protein_id": "NP_001295124.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 891,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429602.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308195.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000429602.7",
"protein_id": "ENSP00000410552.3",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 891,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308195.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429602.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Pro497Ser",
"transcript": "ENST00000443967.5",
"protein_id": "ENSP00000406571.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 872,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443967.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000938813.1",
"protein_id": "ENSP00000608872.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 903,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938813.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000938814.1",
"protein_id": "ENSP00000608873.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 894,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938814.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Pro514Ser",
"transcript": "ENST00000938812.1",
"protein_id": "ENSP00000608871.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 889,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938812.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Pro497Ser",
"transcript": "NM_001308196.2",
"protein_id": "NP_001295125.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 872,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308196.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000943631.1",
"protein_id": "ENSP00000613690.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 848,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943631.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000943634.1",
"protein_id": "ENSP00000613693.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 840,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943634.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser",
"transcript": "ENST00000943633.1",
"protein_id": "ENSP00000613692.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 797,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943633.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Pro342Ser",
"transcript": "ENST00000943632.1",
"protein_id": "ENSP00000613691.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 717,
"cds_start": 1024,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943632.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"transcript": "NM_198567.6",
"protein_id": "NP_940969.3",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 457,
"cds_start": 244,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198567.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"transcript": "ENST00000341199.10",
"protein_id": "ENSP00000342075.6",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 457,
"cds_start": 244,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341199.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"transcript": "ENST00000430704.6",
"protein_id": "ENSP00000409287.2",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 457,
"cds_start": 244,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430704.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Pro520Ser",
"transcript": "XM_011534553.3",
"protein_id": "XP_011532855.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 895,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534553.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Pro520Ser",
"transcript": "XM_011534554.3",
"protein_id": "XP_011532856.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 895,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534554.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Pro493Ser",
"transcript": "XM_011534556.3",
"protein_id": "XP_011532858.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 868,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534556.3"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "c.130-18547C>T",
"hgvs_p": null,
"transcript": "ENST00000881279.1",
"protein_id": "ENSP00000551338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881279.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "n.371C>T",
"hgvs_p": null,
"transcript": "ENST00000495423.1",
"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": "ENST00000495423.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "n.329C>T",
"hgvs_p": null,
"transcript": "NR_131772.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_131772.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"hgvs_c": "n.180-6C>T",
"hgvs_p": null,
"transcript": "ENST00000467472.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000467472.1"
}
],
"gene_symbol": "SIMC1",
"gene_hgnc_id": 24779,
"dbsnp": "rs1345347726",
"frequency_reference_population": 6.8424447e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84244e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23891282081604004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.409,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308195.2",
"gene_symbol": "SIMC1",
"hgnc_id": 24779,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Pro516Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}