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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: 14-75902208-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75902208&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75902208,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015072.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Pro1269Pro",
"transcript": "NM_015072.5",
"protein_id": "NP_055887.3",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298832.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015072.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Pro1269Pro",
"transcript": "ENST00000298832.14",
"protein_id": "ENSP00000298832.9",
"transcript_support_level": 1,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298832.14"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro",
"transcript": "ENST00000882579.1",
"protein_id": "ENSP00000552638.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3810,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882579.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro",
"transcript": "ENST00000882582.1",
"protein_id": "ENSP00000552641.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3810,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882582.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3810C>T",
"hgvs_p": "p.Pro1270Pro",
"transcript": "ENST00000939622.1",
"protein_id": "ENSP00000609681.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3810,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939622.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Pro1269Pro",
"transcript": "ENST00000882580.1",
"protein_id": "ENSP00000552639.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882580.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Pro1269Pro",
"transcript": "ENST00000939618.1",
"protein_id": "ENSP00000609677.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939618.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3804C>T",
"hgvs_p": "p.Pro1268Pro",
"transcript": "ENST00000939621.1",
"protein_id": "ENSP00000609680.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3804,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939621.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3804C>T",
"hgvs_p": "p.Pro1268Pro",
"transcript": "ENST00000969079.1",
"protein_id": "ENSP00000639138.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3804,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969079.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3768C>T",
"hgvs_p": "p.Pro1256Pro",
"transcript": "ENST00000939619.1",
"protein_id": "ENSP00000609678.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3768,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939619.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3768C>T",
"hgvs_p": "p.Pro1256Pro",
"transcript": "ENST00000939620.1",
"protein_id": "ENSP00000609679.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3768,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939620.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3765C>T",
"hgvs_p": "p.Pro1255Pro",
"transcript": "ENST00000939617.1",
"protein_id": "ENSP00000609676.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3765,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939617.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3648C>T",
"hgvs_p": "p.Pro1216Pro",
"transcript": "ENST00000969080.1",
"protein_id": "ENSP00000639139.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3648,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969080.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3645C>T",
"hgvs_p": "p.Pro1215Pro",
"transcript": "ENST00000882581.1",
"protein_id": "ENSP00000552640.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3645,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882581.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "c.3645C>T",
"hgvs_p": "p.Pro1215Pro",
"transcript": "ENST00000882583.1",
"protein_id": "ENSP00000552642.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3645,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.69C>T",
"hgvs_p": null,
"transcript": "ENST00000554487.1",
"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": "ENST00000554487.1"
},
{
"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": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.175C>T",
"hgvs_p": null,
"transcript": "ENST00000554972.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000554972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT43",
"gene_hgnc_id": 29669,
"hgvs_c": "n.73C>T",
"hgvs_p": null,
"transcript": "ENST00000555677.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000555677.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"transcript": "ENST00000557219.1",
"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": "ENST00000557219.1"
}
],
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"dbsnp": "rs773960556",
"frequency_reference_population": 0.0000075247326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752473,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23000000417232513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.076,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015072.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3807C>T",
"hgvs_p": "p.Pro1269Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000555677.5",
"gene_symbol": "IFT43",
"hgnc_id": 29669,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.73C>T",
"hgvs_p": null
}
],
"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
}