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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: 4-151279822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=151279822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 151279822,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_183375.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS48",
"gene_hgnc_id": 24635,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.Arg27Cys",
"transcript": "NM_183375.5",
"protein_id": "NP_899231.4",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 328,
"cds_start": 79,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455694.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183375.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS48",
"gene_hgnc_id": 24635,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.Arg27Cys",
"transcript": "ENST00000455694.7",
"protein_id": "ENSP00000401328.2",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 328,
"cds_start": 79,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_183375.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455694.7"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "NM_001378122.1",
"protein_id": "NP_001365051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000604030.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378122.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000604030.7",
"protein_id": "ENSP00000488951.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": null,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378122.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604030.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRSS48",
"gene_hgnc_id": 24635,
"hgvs_c": "c.52+2598C>T",
"hgvs_p": null,
"transcript": "ENST00000441586.2",
"protein_id": "ENSP00000401420.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441586.2"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000916625.1",
"protein_id": "ENSP00000586684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1082,
"cds_start": null,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916625.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "NM_001378121.1",
"protein_id": "NP_001365050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378121.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000875010.1",
"protein_id": "ENSP00000545069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875010.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000967013.1",
"protein_id": "ENSP00000637072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1053,
"cds_start": null,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967013.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000967015.1",
"protein_id": "ENSP00000637074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": null,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967015.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000967014.1",
"protein_id": "ENSP00000637073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
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"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967014.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000875012.1",
"protein_id": "ENSP00000545071.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1037,
"cds_start": null,
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"cds_length": 3114,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875012.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000875008.1",
"protein_id": "ENSP00000545067.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1034,
"cds_start": null,
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"cds_length": 3105,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875008.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SH3D19",
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"hgvs_c": "c.112+45419G>A",
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"transcript": "ENST00000875009.1",
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"biotype": "protein_coding",
"feature": "ENST00000875009.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000916626.1",
"protein_id": "ENSP00000586685.1",
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"biotype": "protein_coding",
"feature": "ENST00000916626.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SH3D19",
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"hgvs_c": "c.112+45419G>A",
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"biotype": "protein_coding",
"feature": "ENST00000967012.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000875007.1",
"protein_id": "ENSP00000545066.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000875007.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000875011.1",
"protein_id": "ENSP00000545070.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000875011.1"
},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "SH3D19",
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"hgvs_c": "c.-697+45419G>A",
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"transcript": "NM_001378128.1",
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"feature": "NM_001378128.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.-688+45419G>A",
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"protein_id": "NP_001365060.1",
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"biotype": "protein_coding",
"feature": "NM_001378131.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null,
"transcript": "ENST00000916627.1",
"protein_id": "ENSP00000586686.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916627.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.-107+47229G>A",
"hgvs_p": null,
"transcript": "ENST00000716599.1",
"protein_id": "ENSP00000520566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
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"cds_length": 198,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000716599.1"
}
],
"gene_symbol": "PRSS48",
"gene_hgnc_id": 24635,
"dbsnp": "rs776335390",
"frequency_reference_population": 0.000021687672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000232614,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9238376617431641,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.2827,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.961,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_183375.5",
"gene_symbol": "PRSS48",
"hgnc_id": 24635,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79C>T",
"hgvs_p": "p.Arg27Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378121.1",
"gene_symbol": "SH3D19",
"hgnc_id": 30418,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.112+45419G>A",
"hgvs_p": null
}
],
"clinvar_disease": "EBV-positive nodal T- and NK-cell lymphoma,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified|EBV-positive nodal T- and NK-cell lymphoma",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}