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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: 16-7518318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7518318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBFOX1",
"hgnc_id": 18222,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Pro266Ser",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001415887.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.0676,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Idiopathic generalized epilepsy,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18919497728347778,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1194,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018723.4",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000550418.6",
"protein_coding": true,
"protein_id": "NP_061193.2",
"strand": true,
"transcript": "NM_018723.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1194,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000550418.6",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018723.4",
"protein_coding": true,
"protein_id": "ENSP00000450031.1",
"strand": true,
"transcript": "ENST00000550418.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1188,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145893.3",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000355637.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665900.1",
"strand": true,
"transcript": "NM_145893.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1188,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000355637.9",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_145893.3",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347855.4",
"strand": true,
"transcript": "ENST00000355637.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 418,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1257,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000311745.9",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309117.5",
"strand": true,
"transcript": "ENST00000311745.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1179,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000436368.6",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402745.2",
"strand": true,
"transcript": "ENST00000436368.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1113,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553186.5",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447753.1",
"strand": true,
"transcript": "ENST00000553186.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 262,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 384,
"cds_end": null,
"cds_length": 789,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000551752.5",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447281.1",
"strand": true,
"transcript": "ENST00000551752.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 261,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 786,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547605.5",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Pro67Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450402.1",
"strand": true,
"transcript": "ENST00000547605.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 582,
"aa_ref": "P",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1749,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000641259.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Pro226Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493041.1",
"strand": true,
"transcript": "ENST00000641259.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1722,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001415887.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Pro266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402816.1",
"strand": true,
"transcript": "NM_001415887.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1710,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001415888.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Pro266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402817.1",
"strand": true,
"transcript": "NM_001415888.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "P",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1401,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001411047.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Pro110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397976.1",
"strand": true,
"transcript": "NM_001411047.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "P",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1401,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547372.5",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Pro110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446842.1",
"strand": true,
"transcript": "ENST00000547372.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1380,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001415889.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402818.1",
"strand": true,
"transcript": "NM_001415889.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5074,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1347,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001415890.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402819.1",
"strand": true,
"transcript": "NM_001415890.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1323,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001415891.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Pro110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402820.1",
"strand": true,
"transcript": "NM_001415891.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 433,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1302,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001415892.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001402821.1",
"strand": true,
"transcript": "NM_001415892.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1278,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308117.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Pro110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295046.1",
"strand": true,
"transcript": "NM_001308117.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1278,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422070.8",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.328C>T",
"hgvs_p": "p.Pro110Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391269.4",
"strand": true,
"transcript": "ENST00000422070.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 422,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1269,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001415893.1",
"gene_hgnc_id": 18222,
"gene_symbol": "RBFOX1",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"intron_rank": null,
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