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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: 5-132823032-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132823032&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132823032,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001172700.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "NM_001172700.2",
"protein_id": "NP_001166171.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378679.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172700.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000378679.8",
"protein_id": "ENSP00000367950.3",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001172700.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378679.8"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2308G>T",
"hgvs_p": "p.Glu770*",
"transcript": "ENST00000319854.7",
"protein_id": "ENSP00000324245.3",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 847,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319854.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000617339.4",
"protein_id": "ENSP00000478436.1",
"transcript_support_level": 5,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617339.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891704.1",
"protein_id": "ENSP00000561763.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891704.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891705.1",
"protein_id": "ENSP00000561764.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891705.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891706.1",
"protein_id": "ENSP00000561765.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891706.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891707.1",
"protein_id": "ENSP00000561766.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891707.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891708.1",
"protein_id": "ENSP00000561767.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891708.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891710.1",
"protein_id": "ENSP00000561769.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891710.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891711.1",
"protein_id": "ENSP00000561770.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891711.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891712.1",
"protein_id": "ENSP00000561771.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891712.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891713.1",
"protein_id": "ENSP00000561772.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891713.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891714.1",
"protein_id": "ENSP00000561773.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891714.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891715.1",
"protein_id": "ENSP00000561774.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891715.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891716.1",
"protein_id": "ENSP00000561775.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891716.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000891717.1",
"protein_id": "ENSP00000561776.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891717.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000924501.1",
"protein_id": "ENSP00000594560.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924501.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000924502.1",
"protein_id": "ENSP00000594561.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924502.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000949960.1",
"protein_id": "ENSP00000620019.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949960.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000949961.1",
"protein_id": "ENSP00000620020.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949961.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*",
"transcript": "ENST00000949962.1",
"protein_id": "ENSP00000620021.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 852,
"cds_start": 2323,
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"protein_id": "XP_047272689.1",
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"aa_start": 706,
"aa_end": null,
"aa_length": 783,
"cds_start": 2116,
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"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416733.1"
}
],
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"dbsnp": "rs373543302",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28999999165534973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.119,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001172700.2",
"gene_symbol": "SHROOM1",
"hgnc_id": 24084,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2323G>T",
"hgvs_p": "p.Glu775*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}