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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: 14-75902207-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75902207&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75902207,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015072.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3806C>T",
"hgvs_p": "p.Pro1269Leu",
"transcript": "NM_015072.5",
"protein_id": "NP_055887.3",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3806,
"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": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3806C>T",
"hgvs_p": "p.Pro1269Leu",
"transcript": "ENST00000298832.14",
"protein_id": "ENSP00000298832.9",
"transcript_support_level": 1,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3806,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3809C>T",
"hgvs_p": "p.Pro1270Leu",
"transcript": "ENST00000882579.1",
"protein_id": "ENSP00000552638.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3809,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3809C>T",
"hgvs_p": "p.Pro1270Leu",
"transcript": "ENST00000882582.1",
"protein_id": "ENSP00000552641.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3809,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3809C>T",
"hgvs_p": "p.Pro1270Leu",
"transcript": "ENST00000939622.1",
"protein_id": "ENSP00000609681.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3809,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3806C>T",
"hgvs_p": "p.Pro1269Leu",
"transcript": "ENST00000882580.1",
"protein_id": "ENSP00000552639.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3806,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3806C>T",
"hgvs_p": "p.Pro1269Leu",
"transcript": "ENST00000939618.1",
"protein_id": "ENSP00000609677.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3806,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3803C>T",
"hgvs_p": "p.Pro1268Leu",
"transcript": "ENST00000939621.1",
"protein_id": "ENSP00000609680.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3803,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3803C>T",
"hgvs_p": "p.Pro1268Leu",
"transcript": "ENST00000969079.1",
"protein_id": "ENSP00000639138.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3803,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3767C>T",
"hgvs_p": "p.Pro1256Leu",
"transcript": "ENST00000939619.1",
"protein_id": "ENSP00000609678.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3767,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3767C>T",
"hgvs_p": "p.Pro1256Leu",
"transcript": "ENST00000939620.1",
"protein_id": "ENSP00000609679.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3767,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3764C>T",
"hgvs_p": "p.Pro1255Leu",
"transcript": "ENST00000939617.1",
"protein_id": "ENSP00000609676.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3764,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3647C>T",
"hgvs_p": "p.Pro1216Leu",
"transcript": "ENST00000969080.1",
"protein_id": "ENSP00000639139.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3647,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3644C>T",
"hgvs_p": "p.Pro1215Leu",
"transcript": "ENST00000882581.1",
"protein_id": "ENSP00000552640.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3644,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3644C>T",
"hgvs_p": "p.Pro1215Leu",
"transcript": "ENST00000882583.1",
"protein_id": "ENSP00000552642.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3644,
"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.68C>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.174C>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.72C>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.250C>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": "rs1390428089",
"frequency_reference_population": 0.000009913099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000820883,
"gnomad_genomes_af": 0.0000262836,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2718835473060608,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.2318,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.955,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_015072.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3806C>T",
"hgvs_p": "p.Pro1269Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555677.5",
"gene_symbol": "IFT43",
"hgnc_id": 29669,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.72C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}