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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: 11-59152496-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59152496&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FAM111A",
"hgnc_id": 24725,
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_022074.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FAM111A-DT",
"hgnc_id": 53752,
"hgvs_c": "n.177-12329T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000827446.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 364,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "FAM111A-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001312909.2",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675163.1",
"protein_coding": true,
"protein_id": "NP_001299838.1",
"strand": true,
"transcript": "NM_001312909.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675163.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001312909.2",
"protein_coding": true,
"protein_id": "ENSP00000501952.1",
"strand": true,
"transcript": "ENST00000675163.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531147.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431631.1",
"strand": true,
"transcript": "ENST00000531147.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142519.3",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135991.1",
"strand": true,
"transcript": "NM_001142519.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142520.3",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135992.1",
"strand": true,
"transcript": "NM_001142520.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3587,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142521.3",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135993.1",
"strand": true,
"transcript": "NM_001142521.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001312910.2",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001299839.1",
"strand": true,
"transcript": "NM_001312910.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001312911.2",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001299840.1",
"strand": true,
"transcript": "NM_001312911.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369457.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356386.1",
"strand": true,
"transcript": "NM_001369457.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6081,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001374804.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361733.1",
"strand": true,
"transcript": "NM_001374804.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374848.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361777.1",
"strand": true,
"transcript": "NM_001374848.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374849.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361778.1",
"strand": true,
"transcript": "NM_001374849.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001374850.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361779.1",
"strand": true,
"transcript": "NM_001374850.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374851.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361780.1",
"strand": true,
"transcript": "NM_001374851.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374852.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361781.1",
"strand": true,
"transcript": "NM_001374852.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374853.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361782.1",
"strand": true,
"transcript": "NM_001374853.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374854.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361783.1",
"strand": true,
"transcript": "NM_001374854.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001374855.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361784.1",
"strand": true,
"transcript": "NM_001374855.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001374856.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361785.1",
"strand": true,
"transcript": "NM_001374856.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1836,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374857.1",
"gene_hgnc_id": 24725,
"gene_symbol": "FAM111A",
"hgvs_c": "c.828A>G",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361786.1",
"strand": true,
"transcript": "NM_001374857.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 611,
"aa_ref": "A",
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