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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: 1-114719589-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=114719589&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 114719589,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001242891.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "NM_001007553.3",
"protein_id": "NP_001007554.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358528.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007553.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000358528.9",
"protein_id": "ENSP00000351329.4",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007553.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358528.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2251T>C",
"hgvs_p": "p.Trp751Arg",
"transcript": "ENST00000369530.5",
"protein_id": "ENSP00000358543.1",
"transcript_support_level": 1,
"aa_start": 751,
"aa_end": null,
"aa_length": 813,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369530.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000438362.7",
"protein_id": "ENSP00000407724.3",
"transcript_support_level": 1,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438362.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2113T>C",
"hgvs_p": "p.Trp705Arg",
"transcript": "ENST00000261443.9",
"protein_id": "ENSP00000261443.5",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261443.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2113T>C",
"hgvs_p": "p.Trp705Arg",
"transcript": "ENST00000339438.10",
"protein_id": "ENSP00000342408.6",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 767,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339438.10"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2344T>C",
"hgvs_p": "p.Trp782Arg",
"transcript": "NM_001242891.2",
"protein_id": "NP_001229820.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 844,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242891.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2344T>C",
"hgvs_p": "p.Trp782Arg",
"transcript": "ENST00000610726.5",
"protein_id": "ENSP00000481762.1",
"transcript_support_level": 5,
"aa_start": 782,
"aa_end": null,
"aa_length": 844,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610726.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2344T>C",
"hgvs_p": "p.Trp782Arg",
"transcript": "ENST00000688211.1",
"protein_id": "ENSP00000508995.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 844,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688211.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2254T>C",
"hgvs_p": "p.Trp752Arg",
"transcript": "ENST00000967184.1",
"protein_id": "ENSP00000637243.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 814,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967184.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2251T>C",
"hgvs_p": "p.Trp751Arg",
"transcript": "NM_001130523.3",
"protein_id": "NP_001123995.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 813,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130523.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "NM_001242892.2",
"protein_id": "NP_001229821.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242892.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000534699.5",
"protein_id": "ENSP00000432958.1",
"transcript_support_level": 2,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534699.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000689217.1",
"protein_id": "ENSP00000508874.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689217.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000689989.1",
"protein_id": "ENSP00000509808.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689989.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000692719.1",
"protein_id": "ENSP00000510208.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692719.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901466.1",
"protein_id": "ENSP00000571525.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901466.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901467.1",
"protein_id": "ENSP00000571526.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901467.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901476.1",
"protein_id": "ENSP00000571535.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901476.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901484.1",
"protein_id": "ENSP00000571543.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901484.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901492.1",
"protein_id": "ENSP00000571551.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 798,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901492.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"hgvs_c": "c.2206T>C",
"hgvs_p": "p.Trp736Arg",
"transcript": "ENST00000901493.1",
"protein_id": "ENSP00000571552.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
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"gene_symbol": "CSDE1",
"gene_hgnc_id": 29905,
"dbsnp": "rs368147083",
"frequency_reference_population": 0.000032249103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000321863,
"gnomad_genomes_af": 0.0000328515,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11706823110580444,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.2609,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.653,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001242891.2",
"gene_symbol": "CSDE1",
"hgnc_id": 29905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2344T>C",
"hgvs_p": "p.Trp782Arg"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}