← 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: 1-154544001-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154544001&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154544001,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001098475.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "NM_182499.4",
"protein_id": "NP_872305.3",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 351,
"cds_start": 542,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368482.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182499.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000368482.8",
"protein_id": "ENSP00000357467.4",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 351,
"cds_start": 542,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182499.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368482.8"
},
{
"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": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "n.287G>C",
"hgvs_p": null,
"transcript": "ENST00000479937.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000479937.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.617G>C",
"hgvs_p": "p.Arg206Pro",
"transcript": "ENST00000889281.1",
"protein_id": "ENSP00000559340.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 376,
"cds_start": 617,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889281.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "NM_001098475.2",
"protein_id": "NP_001091945.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 366,
"cds_start": 542,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098475.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000368480.3",
"protein_id": "ENSP00000357465.3",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 366,
"cds_start": 542,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368480.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Pro",
"transcript": "XM_011509152.3",
"protein_id": "XP_011507454.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 398,
"cds_start": 638,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509152.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Pro",
"transcript": "XM_011509153.3",
"protein_id": "XP_011507455.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 398,
"cds_start": 638,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509153.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.617G>C",
"hgvs_p": "p.Arg206Pro",
"transcript": "XM_011509154.3",
"protein_id": "XP_011507456.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 391,
"cds_start": 617,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509154.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Pro",
"transcript": "XM_011509155.3",
"protein_id": "XP_011507457.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 383,
"cds_start": 638,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509155.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "XM_011509156.3",
"protein_id": "XP_011507458.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 373,
"cds_start": 563,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509156.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.563G>C",
"hgvs_p": "p.Arg188Pro",
"transcript": "XM_011509157.3",
"protein_id": "XP_011507459.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 358,
"cds_start": 563,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509157.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "XM_011509158.2",
"protein_id": "XP_011507460.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 328,
"cds_start": 428,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509158.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Arg132Pro",
"transcript": "XM_011509159.4",
"protein_id": "XP_011507461.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 317,
"cds_start": 395,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509159.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "XM_017000255.1",
"protein_id": "XP_016855744.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 244,
"cds_start": 176,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000255.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Pro",
"transcript": "XM_011509160.2",
"protein_id": "XP_011507462.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 200,
"cds_start": 44,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509160.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Pro",
"transcript": "XM_011509161.1",
"protein_id": "XP_011507463.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 200,
"cds_start": 44,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509161.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "c.44G>C",
"hgvs_p": "p.Arg15Pro",
"transcript": "XM_047444641.1",
"protein_id": "XP_047300597.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 185,
"cds_start": 44,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444641.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "n.195G>C",
"hgvs_p": null,
"transcript": "ENST00000462871.1",
"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": "ENST00000462871.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"hgvs_c": "n.237G>C",
"hgvs_p": null,
"transcript": "ENST00000468714.5",
"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": "ENST00000468714.5"
}
],
"gene_symbol": "TDRD10",
"gene_hgnc_id": 25316,
"dbsnp": "rs12750774",
"frequency_reference_population": 6.840759e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84076e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1348329782485962,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.2609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.462,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098475.2",
"gene_symbol": "TDRD10",
"hgnc_id": 25316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}