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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: 7-2538605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2538605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"hgvs_c": "c.2110C>T",
"hgvs_p": "p.Arg704*",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001350626.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "7",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "BRAT1-related neurodevelopmental disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.25999999046325684,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1930,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_152743.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1930C>T",
"hgvs_p": "p.Arg644*",
"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": "*",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1930,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000340611.9",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1930C>T",
"hgvs_p": "p.Arg644*",
"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": "*",
"aa_end": null,
"aa_length": 900,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2167,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890463.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723*",
"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": "*",
"aa_end": null,
"aa_length": 899,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2164,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000917322.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Arg722*",
"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": "*",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2137,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890472.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2137C>T",
"hgvs_p": "p.Arg713*",
"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": "*",
"aa_end": null,
"aa_length": 885,
"aa_ref": "R",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2122,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917323.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708*",
"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": "*",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2110,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001350626.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2110C>T",
"hgvs_p": "p.Arg704*",
"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": "*",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2110,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890462.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2110C>T",
"hgvs_p": "p.Arg704*",
"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": "*",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2110,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890481.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2110C>T",
"hgvs_p": "p.Arg704*",
"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": "*",
"aa_end": null,
"aa_length": 880,
"aa_ref": "R",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2107,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890470.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703*",
"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": "*",
"aa_end": null,
"aa_length": 868,
"aa_ref": "R",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2071,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890464.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2071C>T",
"hgvs_p": "p.Arg691*",
"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": "*",
"aa_end": null,
"aa_length": 860,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2047,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970715.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683*",
"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": "*",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2035,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917321.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2035C>T",
"hgvs_p": "p.Arg679*",
"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": "*",
"aa_end": null,
"aa_length": 849,
"aa_ref": "R",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2014,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890468.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Arg672*",
"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": "*",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2011,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917319.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Arg671*",
"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": "*",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1987,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890471.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663*",
"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": "*",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 2003,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1987,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890484.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663*",
"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": "*",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1987,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970714.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663*",
"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": "*",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1984,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890474.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662*",
"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": "*",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1984,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890475.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662*",
"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": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1978,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000917329.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "BRAT1-related neurodevelopmental disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.133,
"pos": 2538605,
"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"
}
]
}