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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: 2-202942858-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=202942858&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CARF",
"hgnc_id": 14435,
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_024744.17",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "WDR12",
"hgnc_id": 14098,
"hgvs_c": "n.243-17391_243-17390delGGinsAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000477723.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024744.17",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438828.4",
"protein_coding": true,
"protein_id": "NP_079020.13",
"strand": true,
"transcript": "NM_024744.17",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438828.4",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024744.17",
"protein_coding": true,
"protein_id": "ENSP00000414644.1",
"strand": true,
"transcript": "ENST00000438828.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 518,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402905.7",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384006.2",
"strand": true,
"transcript": "ENST00000402905.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 309,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 477,
"cds_end": null,
"cds_length": 930,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444724.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416812.1",
"strand": true,
"transcript": "ENST00000444724.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434998.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.1-9701_1-9700delCCinsTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415948.1",
"strand": true,
"transcript": "ENST00000434998.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000422368.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "n.107_108delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392274.1",
"strand": true,
"transcript": "ENST00000422368.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7077,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001104586.4",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098056.1",
"strand": true,
"transcript": "NM_001104586.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322427.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309356.1",
"strand": true,
"transcript": "NM_001322427.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7867,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322428.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309357.1",
"strand": true,
"transcript": "NM_001322428.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877496.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547555.1",
"strand": true,
"transcript": "ENST00000877496.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877497.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547556.1",
"strand": true,
"transcript": "ENST00000877497.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877498.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547557.1",
"strand": true,
"transcript": "ENST00000877498.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919375.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589434.1",
"strand": true,
"transcript": "ENST00000919375.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 432,
"cds_end": null,
"cds_length": 2178,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943229.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613288.1",
"strand": true,
"transcript": "ENST00000943229.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 713,
"aa_ref": "P",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6956,
"cdna_start": 336,
"cds_end": null,
"cds_length": 2142,
"cds_start": 161,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322429.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.161_162delCCinsTT",
"hgvs_p": "p.Pro54Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309358.1",
"strand": true,
"transcript": "NM_001322429.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 130,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": 528,
"cds_end": null,
"cds_length": 395,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414857.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391617.1",
"strand": true,
"transcript": "ENST00000414857.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 94,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 597,
"cdna_start": 508,
"cds_end": null,
"cds_length": 286,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443740.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387785.1",
"strand": true,
"transcript": "ENST00000443740.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 91,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 594,
"cdna_start": 423,
"cds_end": null,
"cds_length": 278,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431787.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.107_108delCCinsTT",
"hgvs_p": "p.Pro36Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395276.1",
"strand": true,
"transcript": "ENST00000431787.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 72,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 572,
"cds_end": null,
"cds_length": 220,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432024.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413166.1",
"strand": true,
"transcript": "ENST00000432024.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 71,
"aa_ref": "P",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 551,
"cds_end": null,
"cds_length": 218,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441569.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.197_198delCCinsTT",
"hgvs_p": "p.Pro66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401918.1",
"strand": true,
"transcript": "ENST00000441569.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 37,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 451,
"cds_end": null,
"cds_length": 116,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 4,
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