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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: 9-108972752-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=108972752&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 108972752,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003798.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "NM_003798.4",
"protein_id": "NP_003789.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 734,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325551.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003798.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000325551.9",
"protein_id": "ENSP00000320434.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 734,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003798.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325551.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000374595.8",
"protein_id": "ENSP00000363723.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 718,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374595.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000863428.1",
"protein_id": "ENSP00000533487.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 732,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863428.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000916573.1",
"protein_id": "ENSP00000586632.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 731,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916573.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000964502.1",
"protein_id": "ENSP00000634561.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 731,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964502.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000964505.1",
"protein_id": "ENSP00000634564.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 731,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964505.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "NM_001286974.2",
"protein_id": "NP_001273903.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 718,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286974.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000964504.1",
"protein_id": "ENSP00000634563.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 712,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964504.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Thr384Ala",
"transcript": "ENST00000964501.1",
"protein_id": "ENSP00000634560.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 692,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964501.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000964500.1",
"protein_id": "ENSP00000634559.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 666,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964500.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "ENST00000964503.1",
"protein_id": "ENSP00000634562.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 665,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964503.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala",
"transcript": "XM_005252291.5",
"protein_id": "XP_005252348.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 732,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252291.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "c.739A>G",
"hgvs_p": "p.Thr247Ala",
"transcript": "XM_017015250.3",
"protein_id": "XP_016870739.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 557,
"cds_start": 739,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015250.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "n.541A>G",
"hgvs_p": null,
"transcript": "ENST00000488130.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000488130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"hgvs_c": "n.1327A>G",
"hgvs_p": null,
"transcript": "XR_007061368.1",
"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": "XR_007061368.1"
}
],
"gene_symbol": "CTNNAL1",
"gene_hgnc_id": 2512,
"dbsnp": "rs1394147240",
"frequency_reference_population": 0.000006608337,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000660834,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05423888564109802,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.539,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003798.4",
"gene_symbol": "CTNNAL1",
"hgnc_id": 2512,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Thr424Ala"
}
],
"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
}