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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: 12-118414397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=118414397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 118414397,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022491.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.951C>T",
"hgvs_p": "p.Arg317Arg",
"transcript": "NM_022491.3",
"protein_id": "NP_071936.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 328,
"cds_start": 951,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543473.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022491.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.951C>T",
"hgvs_p": "p.Arg317Arg",
"transcript": "ENST00000543473.2",
"protein_id": "ENSP00000443988.1",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 328,
"cds_start": 951,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022491.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543473.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Arg328Arg",
"transcript": "ENST00000859517.1",
"protein_id": "ENSP00000529576.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 339,
"cds_start": 984,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859517.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.879C>T",
"hgvs_p": "p.Arg293Arg",
"transcript": "ENST00000859515.1",
"protein_id": "ENSP00000529574.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 304,
"cds_start": 879,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859515.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Arg277Arg",
"transcript": "ENST00000859516.1",
"protein_id": "ENSP00000529575.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 288,
"cds_start": 831,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859516.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Arg212Arg",
"transcript": "ENST00000913123.1",
"protein_id": "ENSP00000583182.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 223,
"cds_start": 636,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913123.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.360C>T",
"hgvs_p": "p.Arg120Arg",
"transcript": "ENST00000913124.1",
"protein_id": "ENSP00000583183.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 131,
"cds_start": 360,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913124.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Arg295Arg",
"transcript": "XM_017019817.2",
"protein_id": "XP_016875306.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 306,
"cds_start": 885,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019817.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.738C>T",
"hgvs_p": "p.Arg246Arg",
"transcript": "XM_047429356.1",
"protein_id": "XP_047285312.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 257,
"cds_start": 738,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429356.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Arg221Arg",
"transcript": "XM_047429357.1",
"protein_id": "XP_047285313.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 232,
"cds_start": 663,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429357.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Arg221Arg",
"transcript": "XM_047429358.1",
"protein_id": "XP_047285314.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 232,
"cds_start": 663,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429358.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "n.303C>T",
"hgvs_p": null,
"transcript": "ENST00000541591.5",
"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": "ENST00000541591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"hgvs_c": "n.*11C>T",
"hgvs_p": null,
"transcript": "ENST00000541280.1",
"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": "ENST00000541280.1"
}
],
"gene_symbol": "SUDS3",
"gene_hgnc_id": 29545,
"dbsnp": "rs147756379",
"frequency_reference_population": 0.0058323536,
"hom_count_reference_population": 48,
"allele_count_reference_population": 9347,
"gnomad_exomes_af": 0.00593128,
"gnomad_genomes_af": 0.00489051,
"gnomad_exomes_ac": 8602,
"gnomad_genomes_ac": 745,
"gnomad_exomes_homalt": 47,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.605,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022491.3",
"gene_symbol": "SUDS3",
"hgnc_id": 29545,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.951C>T",
"hgvs_p": "p.Arg317Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}