← Back to variant description
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: 19-54192316-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54192316&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54192316,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000396388.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "NM_001077446.4",
"protein_id": "NP_001070914.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000396388.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000396388.3",
"protein_id": "ENSP00000379671.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_001077446.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000302937.8",
"protein_id": "ENSP00000305524.4",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000396383.5",
"protein_id": "ENSP00000379667.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "NM_001282333.2",
"protein_id": "NP_001269262.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 312,
"cds_start": 688,
"cds_end": null,
"cds_length": 939,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000667261.1",
"protein_id": "ENSP00000499595.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 312,
"cds_start": 688,
"cds_end": null,
"cds_length": 939,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "NM_001282332.2",
"protein_id": "NP_001269261.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "NM_001386740.1",
"protein_id": "NP_001373669.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "NM_024075.5",
"protein_id": "NP_076980.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000429671.7",
"protein_id": "ENSP00000397402.4",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000455798.6",
"protein_id": "ENSP00000400743.2",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"transcript": "ENST00000653273.2",
"protein_id": "ENSP00000499319.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 303,
"cds_start": 667,
"cds_end": null,
"cds_length": 912,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"transcript": "ENST00000665674.2",
"protein_id": "ENSP00000499684.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 303,
"cds_start": 667,
"cds_end": null,
"cds_length": 912,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "XM_011527294.4",
"protein_id": "XP_011525596.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "XM_047439391.1",
"protein_id": "XP_047295347.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 310,
"cds_start": 688,
"cds_end": null,
"cds_length": 933,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"hgvs_c": "n.1823C>A",
"hgvs_p": null,
"transcript": "ENST00000496583.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSEN34",
"gene_hgnc_id": 15506,
"dbsnp": "rs11879943",
"frequency_reference_population": 0.009999567,
"hom_count_reference_population": 734,
"allele_count_reference_population": 16140,
"gnomad_exomes_af": 0.00855767,
"gnomad_genomes_af": 0.0238464,
"gnomad_exomes_ac": 12510,
"gnomad_genomes_ac": 3630,
"gnomad_exomes_homalt": 618,
"gnomad_genomes_homalt": 116,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.554,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396388.3",
"gene_symbol": "TSEN34",
"hgnc_id": 15506,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg"
}
],
"clinvar_disease": "Pontoneocerebellar hypoplasia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Pontoneocerebellar hypoplasia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}