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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: 2-79858092-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=79858092&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 79858092,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001282597.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "NM_001282597.3",
"protein_id": "NP_001269526.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 953,
"cds_start": 378,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "ENST00000402739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "ENST00000402739.9",
"protein_id": "ENSP00000384638.4",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 953,
"cds_start": 378,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": "NM_001282597.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "ENST00000496558.5",
"protein_id": "ENSP00000419295.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 905,
"cds_start": 378,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Ala160Ala",
"transcript": "NM_001282598.2",
"protein_id": "NP_001269527.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 939,
"cds_start": 480,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "NM_001399737.1",
"protein_id": "NP_001386666.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 905,
"cds_start": 378,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "NM_004389.4",
"protein_id": "NP_004380.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 905,
"cds_start": 378,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "ENST00000466387.5",
"protein_id": "ENSP00000418191.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 905,
"cds_start": 378,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "NM_001164883.2",
"protein_id": "NP_001158355.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 860,
"cds_start": 378,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "ENST00000629316.2",
"protein_id": "ENSP00000486160.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 860,
"cds_start": 378,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_011532556.3",
"protein_id": "XP_011530858.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 953,
"cds_start": 378,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_024452714.2",
"protein_id": "XP_024308482.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 953,
"cds_start": 378,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_024452715.2",
"protein_id": "XP_024308483.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 953,
"cds_start": 378,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_017003403.3",
"protein_id": "XP_016858892.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 905,
"cds_start": 378,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_047443447.1",
"protein_id": "XP_047299403.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 891,
"cds_start": 378,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala",
"transcript": "XM_017003405.3",
"protein_id": "XP_016858894.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 876,
"cds_start": 378,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"hgvs_c": "c.*26G>A",
"hgvs_p": null,
"transcript": "ENST00000409971.6",
"protein_id": "ENSP00000387073.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNNA2",
"gene_hgnc_id": 2510,
"dbsnp": "rs372587283",
"frequency_reference_population": 0.000118337186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 191,
"gnomad_exomes_af": 0.000123131,
"gnomad_genomes_af": 0.0000722876,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.82,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001282597.3",
"gene_symbol": "CTNNA2",
"hgnc_id": 2510,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Ala126Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}