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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: 14-103102410-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103102410&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EXOC3L4",
"hgnc_id": 20120,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001077594.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 819,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001077594.2",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688303.1",
"protein_coding": true,
"protein_id": "NP_001071062.1",
"strand": true,
"transcript": "NM_001077594.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 819,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000688303.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077594.2",
"protein_coding": true,
"protein_id": "ENSP00000509130.1",
"strand": true,
"transcript": "ENST00000688303.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 763,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000380069.7",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369409.3",
"strand": true,
"transcript": "ENST00000380069.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394941.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381870.1",
"strand": true,
"transcript": "NM_001394941.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394942.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381871.1",
"strand": true,
"transcript": "NM_001394942.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000687959.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508483.1",
"strand": true,
"transcript": "ENST00000687959.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 802,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865814.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535873.1",
"strand": true,
"transcript": "ENST00000865814.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865815.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535874.1",
"strand": true,
"transcript": "ENST00000865815.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 988,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865816.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535875.1",
"strand": true,
"transcript": "ENST00000865816.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865817.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535876.1",
"strand": true,
"transcript": "ENST00000865817.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865818.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535877.1",
"strand": true,
"transcript": "ENST00000865818.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865819.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535878.1",
"strand": true,
"transcript": "ENST00000865819.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865821.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535880.1",
"strand": true,
"transcript": "ENST00000865821.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865822.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535881.1",
"strand": true,
"transcript": "ENST00000865822.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 770,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865823.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535882.1",
"strand": true,
"transcript": "ENST00000865823.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 855,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865824.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535883.1",
"strand": true,
"transcript": "ENST00000865824.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953216.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623275.1",
"strand": true,
"transcript": "ENST00000953216.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953218.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623277.1",
"strand": true,
"transcript": "ENST00000953218.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2169,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953219.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623278.1",
"strand": true,
"transcript": "ENST00000953219.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 716,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 937,
"cds_end": null,
"cds_length": 2151,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865820.1",
"gene_hgnc_id": 20120,
"gene_symbol": "EXOC3L4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Pro229Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535879.1",
"strand": true,
"transcript": "ENST00000865820.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 716,
"aa_ref": "P",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2151,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953217.1",
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