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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: 9-108943990-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=108943990&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTNNAL1",
"hgnc_id": 2512,
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003798.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ABITRAM",
"hgnc_id": 1364,
"hgvs_c": "c.262-6517G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001410990.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.132,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2762625217437744,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 734,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_003798.4",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325551.9",
"protein_coding": true,
"protein_id": "NP_003789.1",
"strand": false,
"transcript": "NM_003798.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 734,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000325551.9",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003798.4",
"protein_coding": true,
"protein_id": "ENSP00000320434.4",
"strand": false,
"transcript": "ENST00000325551.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000374595.8",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363723.4",
"strand": false,
"transcript": "ENST00000374595.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 732,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 2116,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000863428.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533487.1",
"strand": false,
"transcript": "ENST00000863428.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000916573.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586632.1",
"strand": false,
"transcript": "ENST00000916573.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000964502.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634561.1",
"strand": false,
"transcript": "ENST00000964502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000964505.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1910C>T",
"hgvs_p": "p.Thr637Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634564.1",
"strand": false,
"transcript": "ENST00000964505.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001286974.2",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273903.1",
"strand": false,
"transcript": "NM_001286974.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 712,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000964504.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634563.1",
"strand": false,
"transcript": "ENST00000964504.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 692,
"aa_ref": "T",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1793,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000964501.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1793C>T",
"hgvs_p": "p.Thr598Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634560.1",
"strand": false,
"transcript": "ENST00000964501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 666,
"aa_ref": "T",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964500.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Thr570Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634559.1",
"strand": false,
"transcript": "ENST00000964500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 665,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964503.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Thr569Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634562.1",
"strand": false,
"transcript": "ENST00000964503.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 135,
"aa_ref": "T",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": 342,
"cds_end": null,
"cds_length": 408,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374594.1",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Thr39Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363722.1",
"strand": false,
"transcript": "ENST00000374594.1",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 732,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005252291.5",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1913C>T",
"hgvs_p": "p.Thr638Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252348.1",
"strand": false,
"transcript": "XM_005252291.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 557,
"aa_ref": "T",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017015250.3",
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Thr461Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870739.1",
"strand": false,
"transcript": "XM_017015250.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964591.1",
"gene_hgnc_id": 1364,
"gene_symbol": "ABITRAM",
"hgvs_c": "c.*25+4279G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634650.1",
"strand": true,
"transcript": "ENST00000964591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": null,
"cds_end": null,
"cds_length": 348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410990.1",
"gene_hgnc_id": 1364,
"gene_symbol": "ABITRAM",
"hgvs_c": "c.262-6517G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397919.1",
"strand": true,
"transcript": "NM_001410990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 499,
"cdna_start": null,
"cds_end": null,
"cds_length": 348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374624.7",
"gene_hgnc_id": 1364,
"gene_symbol": "ABITRAM",
"hgvs_c": "c.262-6517G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363754.3",
"strand": true,
"transcript": "ENST00000374624.7",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1031600118",
"effect": "missense_variant",
"frequency_reference_population": 6.8421167e-7,
"gene_hgnc_id": 2512,
"gene_symbol": "CTNNAL1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84212e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.315,
"pos": 108943990,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.077,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_003798.4"
}
]
}