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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: 19-6743212-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6743212&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6743212,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000313244.14",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001288962.2",
"protein_id": "NP_001275891.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": "ENST00000313244.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000313244.14",
"protein_id": "ENSP00000320117.7",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 601,
"cds_start": 364,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": "NM_001288962.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000596758.5",
"protein_id": "ENSP00000469360.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 593,
"cds_start": 364,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000313285.12",
"protein_id": "ENSP00000320493.6",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 545,
"cds_start": 364,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_001288963.3",
"protein_id": "NP_001275892.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 593,
"cds_start": 364,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "NM_004240.4",
"protein_id": "NP_004231.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 545,
"cds_start": 364,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "ENST00000600428.5",
"protein_id": "ENSP00000471203.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 437,
"cds_start": 40,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "ENST00000596673.1",
"protein_id": "ENSP00000471056.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 82,
"cds_start": 40,
"cds_end": null,
"cds_length": 251,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "XM_006722940.2",
"protein_id": "XP_006723003.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 649,
"cds_start": 364,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "XM_005259683.3",
"protein_id": "XP_005259740.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 334,
"cds_start": 364,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1166,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.399C>T",
"hgvs_p": null,
"transcript": "ENST00000595305.5",
"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": 2068,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.505C>T",
"hgvs_p": null,
"transcript": "ENST00000595319.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 776,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.441C>T",
"hgvs_p": null,
"transcript": "ENST00000596078.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1010,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000600491.5",
"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": 1493,
"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": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.364C>T",
"hgvs_p": null,
"transcript": "ENST00000600677.5",
"protein_id": "ENSP00000472580.1",
"transcript_support_level": 5,
"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": 2022,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.224C>T",
"hgvs_p": null,
"transcript": "ENST00000601303.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 311,
"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": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.446C>T",
"hgvs_p": null,
"transcript": "NR_110231.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TRIP10",
"gene_hgnc_id": 12304,
"hgvs_c": "n.*131C>T",
"hgvs_p": null,
"transcript": "ENST00000596543.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIP10",
"gene_hgnc_id": 12304,
"dbsnp": "rs774458826",
"frequency_reference_population": 0.00003097905,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000300998,
"gnomad_genomes_af": 0.0000394239,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2658257484436035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.3554,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.768,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313244.14",
"gene_symbol": "TRIP10",
"hgnc_id": 12304,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}