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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: 14-24147998-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24147998&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24147998,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017999.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "NM_017999.5",
"protein_id": "NP_060469.4",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1072,
"cds_start": 215,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324103.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017999.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000324103.11",
"protein_id": "ENSP00000315112.6",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 1072,
"cds_start": 215,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017999.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324103.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-303T>C",
"hgvs_p": null,
"transcript": "ENST00000559275.5",
"protein_id": "ENSP00000453574.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": null,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559275.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259529",
"gene_hgnc_id": null,
"hgvs_c": "n.215T>C",
"hgvs_p": null,
"transcript": "ENST00000558468.2",
"protein_id": "ENSP00000457512.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558468.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000949516.1",
"protein_id": "ENSP00000619575.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1085,
"cds_start": 215,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949516.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000886644.1",
"protein_id": "ENSP00000556703.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1077,
"cds_start": 215,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886644.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000886640.1",
"protein_id": "ENSP00000556699.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1071,
"cds_start": 215,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886640.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000886641.1",
"protein_id": "ENSP00000556700.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1071,
"cds_start": 215,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886641.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000912695.1",
"protein_id": "ENSP00000582754.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1070,
"cds_start": 215,
"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": "ENST00000912695.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000912694.1",
"protein_id": "ENSP00000582753.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1064,
"cds_start": 215,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912694.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000699885.1",
"protein_id": "ENSP00000514674.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1055,
"cds_start": 215,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699885.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000886642.1",
"protein_id": "ENSP00000556701.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1002,
"cds_start": 215,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886642.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000886643.1",
"protein_id": "ENSP00000556702.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 989,
"cds_start": 215,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886643.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000949517.1",
"protein_id": "ENSP00000619576.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 871,
"cds_start": 215,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949517.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000558907.6",
"protein_id": "ENSP00000453601.2",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 493,
"cds_start": 215,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558907.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Leu72Pro",
"transcript": "ENST00000557991.5",
"protein_id": "ENSP00000453423.1",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 169,
"cds_start": 215,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557991.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-303T>C",
"hgvs_p": null,
"transcript": "NM_001310332.2",
"protein_id": "NP_001297261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": null,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001310332.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-341T>C",
"hgvs_p": null,
"transcript": "ENST00000559533.6",
"protein_id": "ENSP00000454048.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": null,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559533.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-341T>C",
"hgvs_p": null,
"transcript": "ENST00000560071.5",
"protein_id": "ENSP00000453948.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560071.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-341T>C",
"hgvs_p": null,
"transcript": "ENST00000559308.5",
"protein_id": "ENSP00000453471.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559308.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "c.-341T>C",
"hgvs_p": null,
"transcript": "ENST00000559260.5",
"protein_id": "ENSP00000453645.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": null,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559260.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF31",
"gene_hgnc_id": 16031,
"hgvs_c": "n.119T>C",
"hgvs_p": null,
"transcript": "ENST00000557878.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557878.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"PP5"
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"verdict": "Uncertain_significance",
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"effects": [
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{
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],
"clinvar_disease": "Immunodeficiency 115 with autoinflammation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency 115 with autoinflammation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}