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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": "NM_015723.5",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257694.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256007.3"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256007.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257694.13"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422087.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436062.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453144.5"
},
{
"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.2308_2309delCT",
"hgvs_p": "p.Leu770fs",
"transcript": "ENST00000852537.1",
"protein_id": "ENSP00000522596.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 793,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852537.1"
},
{
"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.2302_2303delCT",
"hgvs_p": "p.Leu768fs",
"transcript": "ENST00000924159.1",
"protein_id": "ENSP00000594218.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 791,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924159.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256008.3"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015723.5"
},
{
"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": "ENST00000967878.1",
"protein_id": "ENSP00000637937.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967878.1"
},
{
"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": "ENST00000967880.1",
"protein_id": "ENSP00000637939.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967880.1"
},
{
"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": "ENST00000967883.1",
"protein_id": "ENSP00000637942.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967883.1"
},
{
"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": "ENST00000967885.1",
"protein_id": "ENSP00000637944.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 782,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967885.1"
},
{
"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.2272_2273delCT",
"hgvs_p": "p.Leu758fs",
"transcript": "ENST00000924161.1",
"protein_id": "ENSP00000594220.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 781,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924161.1"
},
{
"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.2272_2273delCT",
"hgvs_p": "p.Leu758fs",
"transcript": "ENST00000967884.1",
"protein_id": "ENSP00000637943.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 781,
"cds_start": 2272,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967884.1"
},
{
"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.2269_2270delCT",
"hgvs_p": "p.Leu757fs",
"transcript": "ENST00000967879.1",
"protein_id": "ENSP00000637938.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 780,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967879.1"
},
{
"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.2137_2138delCT",
"hgvs_p": "p.Leu713fs",
"transcript": "ENST00000967881.1",
"protein_id": "ENSP00000637940.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 736,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967881.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256009.3"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426128.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2080_2081delCT",
"hgvs_p": "p.Leu694fs",
"transcript": "ENST00000852536.1",
"protein_id": "ENSP00000522595.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 717,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852536.1"
},
{
"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.2080_2081delCT",
"hgvs_p": "p.Leu694fs",
"transcript": "ENST00000924158.1",
"protein_id": "ENSP00000594217.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 717,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924158.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA8",
"gene_hgnc_id": 28900,
"hgvs_c": "c.2008_2009delCT",
"hgvs_p": "p.Leu670fs",
"transcript": "ENST00000924160.1",
"protein_id": "ENSP00000594219.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 693,
"cds_start": 2008,
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],
"gene_symbol": "PNPLA8",
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"dbsnp": "rs774184465",
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"hom_count_reference_population": 0,
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"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,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.085,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015723.5",
"gene_symbol": "PNPLA8",
"hgnc_id": 28900,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
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"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
}