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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: 7-108472473-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108472473&ref=CAG&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "7",
"pos": 108472473,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000257694.13",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "NM_001256007.3",
"protein_id": "NP_001242936.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": "ENST00000257694.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "ENST00000257694.13",
"protein_id": "ENSP00000257694.8",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": "NM_001256007.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "ENST00000422087.5",
"protein_id": "ENSP00000410804.1",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "ENST00000436062.5",
"protein_id": "ENSP00000406779.1",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.1975_1976delCT",
"hgvs_p": "p.Leu659fs",
"transcript": "ENST00000453144.5",
"protein_id": "ENSP00000387789.1",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 682,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "NM_001256008.3",
"protein_id": "NP_001242937.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs",
"transcript": "NM_015723.5",
"protein_id": "NP_056538.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2089_2090delCT",
"hgvs_p": "p.Leu697fs",
"transcript": "NM_001256009.3",
"protein_id": "NP_001242938.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 720,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2089_2090delCT",
"hgvs_p": "p.Leu697fs",
"transcript": "ENST00000426128.6",
"protein_id": "ENSP00000394988.2",
"transcript_support_level": 5,
"aa_start": 697,
"aa_end": null,
"aa_length": 720,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.1975_1976delCT",
"hgvs_p": "p.Leu659fs",
"transcript": "NM_001256010.3",
"protein_id": "NP_001242939.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 682,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.1975_1976delCT",
"hgvs_p": "p.Leu659fs",
"transcript": "NM_001256011.3",
"protein_id": "NP_001242940.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 682,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2359_2360delCT",
"hgvs_p": "p.Leu787fs",
"transcript": "XM_011516274.4",
"protein_id": "XP_011514576.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 810,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2173_2174delCT",
"hgvs_p": "p.Leu725fs",
"transcript": "XM_011516275.4",
"protein_id": "XP_011514577.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 748,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2089_2090delCT",
"hgvs_p": "p.Leu697fs",
"transcript": "XM_005250396.6",
"protein_id": "XP_005250453.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 720,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.*56_*57delCT",
"hgvs_p": null,
"transcript": "ENST00000453085.1",
"protein_id": "ENSP00000402274.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"dbsnp": "rs774184465",
"frequency_reference_population": 0.000008749344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000759697,
"gnomad_genomes_af": 0.0000197143,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.085,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000257694.13",
"gene_symbol": "PNPLA8",
"hgnc_id": 28900,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2275_2276delCT",
"hgvs_p": "p.Leu759fs"
}
],
"clinvar_disease": "Mitochondrial myopathy-lactic acidosis-deafness syndrome,not provided,not specified",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 US:1",
"phenotype_combined": "Mitochondrial myopathy-lactic acidosis-deafness syndrome|not specified|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}