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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-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108472473&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "PNPLA8",
"hgnc_id": 28900,
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015723.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001256007.3",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257694.13",
"protein_coding": true,
"protein_id": "NP_001242936.1",
"strand": false,
"transcript": "NM_001256007.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000257694.13",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256007.3",
"protein_coding": true,
"protein_id": "ENSP00000257694.8",
"strand": false,
"transcript": "ENST00000257694.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 2683,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000422087.5",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410804.1",
"strand": false,
"transcript": "ENST00000422087.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2649,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000436062.5",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406779.1",
"strand": false,
"transcript": "ENST00000436062.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 682,
"aa_ref": "L",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1976,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000453144.5",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.1976delT",
"hgvs_p": "p.Leu659fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387789.1",
"strand": false,
"transcript": "ENST00000453144.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 793,
"aa_ref": "L",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2309,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000852537.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2309delT",
"hgvs_p": "p.Leu770fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522596.1",
"strand": false,
"transcript": "ENST00000852537.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 791,
"aa_ref": "L",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2303,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924159.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2303delT",
"hgvs_p": "p.Leu768fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594218.1",
"strand": false,
"transcript": "ENST00000924159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001256008.3",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001242937.1",
"strand": false,
"transcript": "NM_001256008.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015723.5",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056538.1",
"strand": false,
"transcript": "NM_015723.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967878.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637937.1",
"strand": false,
"transcript": "ENST00000967878.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967880.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637939.1",
"strand": false,
"transcript": "ENST00000967880.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 2645,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967883.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637942.1",
"strand": false,
"transcript": "ENST00000967883.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": "L",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2276,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967885.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2276delT",
"hgvs_p": "p.Leu759fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637944.1",
"strand": false,
"transcript": "ENST00000967885.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": "L",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2273,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924161.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2273delT",
"hgvs_p": "p.Leu758fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594220.1",
"strand": false,
"transcript": "ENST00000924161.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": "L",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2273,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967884.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2273delT",
"hgvs_p": "p.Leu758fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637943.1",
"strand": false,
"transcript": "ENST00000967884.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": "L",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 2343,
"cds_start": 2270,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967879.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2270delT",
"hgvs_p": "p.Leu757fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637938.1",
"strand": false,
"transcript": "ENST00000967879.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 736,
"aa_ref": "L",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2138,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967881.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2138delT",
"hgvs_p": "p.Leu713fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637940.1",
"strand": false,
"transcript": "ENST00000967881.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": "L",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2090,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001256009.3",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2090delT",
"hgvs_p": "p.Leu697fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001242938.1",
"strand": false,
"transcript": "NM_001256009.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": "L",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4268,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2090,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000426128.6",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2090delT",
"hgvs_p": "p.Leu697fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394988.2",
"strand": false,
"transcript": "ENST00000426128.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": "L",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2081,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852536.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2081delT",
"hgvs_p": "p.Leu694fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522595.1",
"strand": false,
"transcript": "ENST00000852536.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": "L",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2081,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924158.1",
"gene_hgnc_id": 28900,
"gene_symbol": "PNPLA8",
"hgvs_c": "c.2081delT",
"hgvs_p": "p.Leu694fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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