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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: 12-117046646-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=117046646&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 117046646,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_017899.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser",
"transcript": "NM_017899.4",
"protein_id": "NP_060369.3",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 214,
"cds_start": 432,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335209.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017899.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser",
"transcript": "ENST00000335209.12",
"protein_id": "ENSP00000334785.7",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 214,
"cds_start": 432,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017899.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335209.12"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser",
"transcript": "ENST00000940881.1",
"protein_id": "ENSP00000610940.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 213,
"cds_start": 432,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940881.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser",
"transcript": "ENST00000874651.1",
"protein_id": "ENSP00000544710.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 198,
"cds_start": 432,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874651.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ser117Ser",
"transcript": "NM_001168325.2",
"protein_id": "NP_001161797.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 187,
"cds_start": 351,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168325.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ser117Ser",
"transcript": "ENST00000541210.5",
"protein_id": "ENSP00000445689.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 187,
"cds_start": 351,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541210.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ser117Ser",
"transcript": "ENST00000925487.1",
"protein_id": "ENSP00000595546.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 171,
"cds_start": 351,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925487.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Ser99Ser",
"transcript": "ENST00000940882.1",
"protein_id": "ENSP00000610941.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 169,
"cds_start": 297,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940882.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ser27Ser",
"transcript": "ENST00000549210.1",
"protein_id": "ENSP00000450386.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 81,
"cds_start": 81,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549210.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Ser132Ser",
"transcript": "XM_011538503.1",
"protein_id": "XP_011536805.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 202,
"cds_start": 396,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538503.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser",
"transcript": "XM_017019532.2",
"protein_id": "XP_016875021.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 198,
"cds_start": 432,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019532.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Ser117Ser",
"transcript": "XM_047429044.1",
"protein_id": "XP_047285000.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 171,
"cds_start": 351,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "n.*154G>A",
"hgvs_p": null,
"transcript": "ENST00000462502.5",
"protein_id": "ENSP00000432608.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000462502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "n.437G>A",
"hgvs_p": null,
"transcript": "ENST00000470612.5",
"protein_id": "ENSP00000432716.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000470612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "n.290G>A",
"hgvs_p": null,
"transcript": "ENST00000535198.1",
"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": "ENST00000535198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "n.571G>A",
"hgvs_p": null,
"transcript": "NR_031766.3",
"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_031766.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"hgvs_c": "n.*154G>A",
"hgvs_p": null,
"transcript": "ENST00000462502.5",
"protein_id": "ENSP00000432608.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000462502.5"
}
],
"gene_symbol": "TESC",
"gene_hgnc_id": 26065,
"dbsnp": "rs1160446471",
"frequency_reference_population": 0.00004252906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000442959,
"gnomad_genomes_af": 0.0000262809,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.808,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_017899.4",
"gene_symbol": "TESC",
"hgnc_id": 26065,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.432G>A",
"hgvs_p": "p.Ser144Ser"
}
],
"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
}