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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: 7-2538651-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2538651&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"hgvs_c": "c.2064C>T",
"hgvs_p": "p.Ala688Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001350626.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 1952,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "BRAT1-related disorder,Neonatal-onset encephalopathy with rigidity and seizures,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1884,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_152743.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1884C>T",
"hgvs_p": "p.Ala628Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340611.9",
"protein_coding": true,
"protein_id": "NP_689956.2",
"strand": false,
"transcript": "NM_152743.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1884,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000340611.9",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1884C>T",
"hgvs_p": "p.Ala628Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152743.4",
"protein_coding": true,
"protein_id": "ENSP00000339637.4",
"strand": false,
"transcript": "ENST00000340611.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2121,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890463.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2121C>T",
"hgvs_p": "p.Ala707Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560522.1",
"strand": false,
"transcript": "ENST00000890463.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2118,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000917322.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2118C>T",
"hgvs_p": "p.Ala706Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587381.1",
"strand": false,
"transcript": "ENST00000917322.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890472.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2091C>T",
"hgvs_p": "p.Ala697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560531.1",
"strand": false,
"transcript": "ENST00000890472.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 885,
"aa_ref": "A",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917323.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Ala692Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587382.1",
"strand": false,
"transcript": "ENST00000917323.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2064,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001350626.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2064C>T",
"hgvs_p": "p.Ala688Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337555.1",
"strand": false,
"transcript": "NM_001350626.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2064,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890462.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2064C>T",
"hgvs_p": "p.Ala688Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560521.1",
"strand": false,
"transcript": "ENST00000890462.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2064,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890481.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2064C>T",
"hgvs_p": "p.Ala688Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560540.1",
"strand": false,
"transcript": "ENST00000890481.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890470.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2061C>T",
"hgvs_p": "p.Ala687Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560529.1",
"strand": false,
"transcript": "ENST00000890470.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 868,
"aa_ref": "A",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2025,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890464.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Ala675Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560523.1",
"strand": false,
"transcript": "ENST00000890464.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 860,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970715.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640774.1",
"strand": false,
"transcript": "ENST00000970715.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 856,
"aa_ref": "A",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1989,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917321.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1989C>T",
"hgvs_p": "p.Ala663Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587380.1",
"strand": false,
"transcript": "ENST00000917321.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 849,
"aa_ref": "A",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1968,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890468.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1968C>T",
"hgvs_p": "p.Ala656Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560527.1",
"strand": false,
"transcript": "ENST00000890468.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1965,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917319.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1965C>T",
"hgvs_p": "p.Ala655Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587378.1",
"strand": false,
"transcript": "ENST00000917319.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1941,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890471.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Ala647Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560530.1",
"strand": false,
"transcript": "ENST00000890471.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1941,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890484.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Ala647Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560543.1",
"strand": false,
"transcript": "ENST00000890484.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1941,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970714.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Ala647Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640773.1",
"strand": false,
"transcript": "ENST00000970714.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1938,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890474.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.Ala646Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560533.1",
"strand": false,
"transcript": "ENST00000890474.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1938,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890475.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.Ala646Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560534.1",
"strand": false,
"transcript": "ENST00000890475.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1932,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
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"gnomad_genomes_ac": 1007,
"gnomad_genomes_af": 0.00661004,
"gnomad_genomes_homalt": 11,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 18,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided|Neonatal-onset encephalopathy with rigidity and seizures|BRAT1-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.985,
"pos": 2538651,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001350626.2"
}
]
}