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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: 16-1528513-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1528513&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1528513,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000426508.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "NM_014714.4",
"protein_id": "NP_055529.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": "ENST00000426508.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "ENST00000426508.7",
"protein_id": "ENSP00000406012.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": "NM_014714.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.-19-1717T>C",
"hgvs_p": null,
"transcript": "ENST00000361339.9",
"protein_id": "ENSP00000354895.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2987,
"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": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "n.*952-1717T>C",
"hgvs_p": null,
"transcript": "ENST00000397417.6",
"protein_id": "ENSP00000380562.2",
"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": 4023,
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "n.1088-1717T>C",
"hgvs_p": null,
"transcript": "ENST00000565298.5",
"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": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_006720990.4",
"protein_id": "XP_006721053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_006720991.4",
"protein_id": "XP_006721054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434965.1",
"protein_id": "XP_047290921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434966.1",
"protein_id": "XP_047290922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434967.1",
"protein_id": "XP_047290923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434968.1",
"protein_id": "XP_047290924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434969.1",
"protein_id": "XP_047290925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.2154-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434970.1",
"protein_id": "XP_047290926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1380,
"cds_start": -4,
"cds_end": null,
"cds_length": 4143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.1425-1717T>C",
"hgvs_p": null,
"transcript": "XM_011522767.2",
"protein_id": "XP_011521069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": -4,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.585-1717T>C",
"hgvs_p": null,
"transcript": "XM_047434971.1",
"protein_id": "XP_047290927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": -4,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.32+396T>C",
"hgvs_p": null,
"transcript": "XM_006720992.4",
"protein_id": "XP_006721055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM204",
"gene_hgnc_id": 14158,
"hgvs_c": "c.-626A>G",
"hgvs_p": null,
"transcript": "ENST00000253934.9",
"protein_id": "ENSP00000253934.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM204",
"gene_hgnc_id": 14158,
"hgvs_c": "c.-626A>G",
"hgvs_p": null,
"transcript": "NM_001256541.2",
"protein_id": "NP_001243470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"dbsnp": "rs1983600",
"frequency_reference_population": 0.000026533997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000026534,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.644,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000426508.7",
"gene_symbol": "IFT140",
"hgnc_id": 29077,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2400-1717T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001256541.2",
"gene_symbol": "TMEM204",
"hgnc_id": 14158,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-626A>G",
"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
}