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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: 3-160366130-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=160366130&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 160366130,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000326448.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Ala154Ala",
"transcript": "NM_020800.3",
"protein_id": "NP_065851.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 777,
"cds_start": 462,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": "ENST00000326448.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000326448.12",
"protein_id": "ENSP00000312778.7",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 777,
"cds_start": 462,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": "NM_020800.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000483465.5",
"protein_id": "ENSP00000418196.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 640,
"cds_start": 51,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM59-IFT80",
"gene_hgnc_id": 56756,
"hgvs_c": "n.975G>T",
"hgvs_p": null,
"transcript": "ENST00000483754.1",
"protein_id": "ENSP00000456272.1",
"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": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "NM_001190241.2",
"protein_id": "NP_001177170.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 640,
"cds_start": 51,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "NM_001190242.2",
"protein_id": "NP_001177171.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 640,
"cds_start": 51,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000496589.5",
"protein_id": "ENSP00000420646.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 640,
"cds_start": 51,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000498409.5",
"protein_id": "ENSP00000420001.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 178,
"cds_start": 462,
"cds_end": null,
"cds_length": 539,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000465537.5",
"protein_id": "ENSP00000418602.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 121,
"cds_start": 51,
"cds_end": null,
"cds_length": 366,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000475677.5",
"protein_id": "ENSP00000419458.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 76,
"cds_start": 51,
"cds_end": null,
"cds_length": 232,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000468218.5",
"protein_id": "ENSP00000417057.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 41,
"cds_start": 51,
"cds_end": null,
"cds_length": 126,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000478370.5",
"protein_id": "ENSP00000420758.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 31,
"cds_start": 51,
"cds_end": null,
"cds_length": 98,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "c.51G>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000486856.5",
"protein_id": "ENSP00000417861.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 31,
"cds_start": 51,
"cds_end": null,
"cds_length": 98,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "n.117G>T",
"hgvs_p": null,
"transcript": "ENST00000484963.5",
"protein_id": "ENSP00000420260.1",
"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": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM59-IFT80",
"gene_hgnc_id": 56756,
"hgvs_c": "n.1170G>T",
"hgvs_p": null,
"transcript": "NR_148401.1",
"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": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM59-IFT80",
"gene_hgnc_id": 56756,
"hgvs_c": "n.2706G>T",
"hgvs_p": null,
"transcript": "NR_148402.1",
"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": 6117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM59-IFT80",
"gene_hgnc_id": 56756,
"hgvs_c": "n.2973G>T",
"hgvs_p": null,
"transcript": "NR_148403.1",
"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": 6384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "n.564-8552G>T",
"hgvs_p": null,
"transcript": "ENST00000472773.5",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "n.257-8552G>T",
"hgvs_p": null,
"transcript": "ENST00000478460.5",
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"hgvs_c": "n.1769-8552G>T",
"hgvs_p": null,
"transcript": "ENST00000487943.5",
"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": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT80",
"gene_hgnc_id": 29262,
"dbsnp": "rs34182424",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.079,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000326448.12",
"gene_symbol": "IFT80",
"hgnc_id": 29262,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.462G>T",
"hgvs_p": "p.Ala154Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000483754.1",
"gene_symbol": "TRIM59-IFT80",
"hgnc_id": 56756,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.975G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}