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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: 11-209908-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=209908&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 209908,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021932.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "NM_001286134.2",
"protein_id": "NP_001273063.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 531,
"cds_start": 634,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000526104.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286134.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000526104.6",
"protein_id": "ENSP00000432008.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 531,
"cds_start": 634,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286134.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526104.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000325207.9",
"protein_id": "ENSP00000325941.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 537,
"cds_start": 634,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325207.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Leu206Phe",
"transcript": "ENST00000527696.5",
"protein_id": "ENSP00000434833.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 525,
"cds_start": 616,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527696.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000853239.1",
"protein_id": "ENSP00000523298.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 550,
"cds_start": 634,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853239.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "NM_021932.6",
"protein_id": "NP_068751.4",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 537,
"cds_start": 634,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021932.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Leu216Phe",
"transcript": "NM_001386941.1",
"protein_id": "NP_001373870.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 535,
"cds_start": 646,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386941.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000853238.1",
"protein_id": "ENSP00000523297.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 530,
"cds_start": 634,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853238.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000853241.1",
"protein_id": "ENSP00000523300.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 529,
"cds_start": 634,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853241.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Leu209Phe",
"transcript": "ENST00000853237.1",
"protein_id": "ENSP00000523296.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 528,
"cds_start": 625,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853237.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000941738.1",
"protein_id": "ENSP00000611797.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 528,
"cds_start": 634,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941738.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Leu200Phe",
"transcript": "ENST00000941737.1",
"protein_id": "ENSP00000611796.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 519,
"cds_start": 598,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941737.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.586C>T",
"hgvs_p": "p.Leu196Phe",
"transcript": "ENST00000853236.1",
"protein_id": "ENSP00000523295.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 515,
"cds_start": 586,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853236.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Leu192Phe",
"transcript": "ENST00000853242.1",
"protein_id": "ENSP00000523301.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 511,
"cds_start": 574,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853242.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Phe",
"transcript": "ENST00000853235.1",
"protein_id": "ENSP00000523294.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 499,
"cds_start": 634,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853235.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Leu172Phe",
"transcript": "ENST00000853240.1",
"protein_id": "ENSP00000523299.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 491,
"cds_start": 514,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853240.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Leu102Phe",
"transcript": "NM_001386942.1",
"protein_id": "NP_001373871.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 421,
"cds_start": 304,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386942.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Leu93Phe",
"transcript": "ENST00000527728.1",
"protein_id": "ENSP00000436192.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 284,
"cds_start": 277,
"cds_end": null,
"cds_length": 857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527728.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Leu216Phe",
"transcript": "XM_047427393.1",
"protein_id": "XP_047283349.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 541,
"cds_start": 646,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "n.*571C>T",
"hgvs_p": null,
"transcript": "ENST00000526982.1",
"protein_id": "ENSP00000435167.1",
"transcript_support_level": 3,
"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": "ENST00000526982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "n.164C>T",
"hgvs_p": null,
"transcript": "ENST00000527039.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000527039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8A",
"gene_hgnc_id": 29550,
"hgvs_c": "n.*571C>T",
"hgvs_p": null,
"transcript": "ENST00000526982.1",
"protein_id": "ENSP00000435167.1",
"transcript_support_level": 3,
"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,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}