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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: 7-2538366-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2538366&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2538366,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001350626.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2169T>A",
"hgvs_p": "p.Leu723Leu",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 821,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152743.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2169T>A",
"hgvs_p": "p.Leu723Leu",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 821,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340611.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2406T>A",
"hgvs_p": "p.Leu802Leu",
"transcript": "ENST00000890463.1",
"protein_id": "ENSP00000560522.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 900,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890463.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2403T>A",
"hgvs_p": "p.Leu801Leu",
"transcript": "ENST00000917322.1",
"protein_id": "ENSP00000587381.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 899,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917322.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2376T>A",
"hgvs_p": "p.Leu792Leu",
"transcript": "ENST00000890472.1",
"protein_id": "ENSP00000560531.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 890,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890472.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2361T>A",
"hgvs_p": "p.Leu787Leu",
"transcript": "ENST00000917323.1",
"protein_id": "ENSP00000587382.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 885,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917323.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2349T>A",
"hgvs_p": "p.Leu783Leu",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 881,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350626.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2349T>A",
"hgvs_p": "p.Leu783Leu",
"transcript": "ENST00000890462.1",
"protein_id": "ENSP00000560521.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 881,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890462.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2349T>A",
"hgvs_p": "p.Leu783Leu",
"transcript": "ENST00000890481.1",
"protein_id": "ENSP00000560540.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 881,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890481.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2346T>A",
"hgvs_p": "p.Leu782Leu",
"transcript": "ENST00000890470.1",
"protein_id": "ENSP00000560529.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 880,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890470.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2310T>A",
"hgvs_p": "p.Leu770Leu",
"transcript": "ENST00000890464.1",
"protein_id": "ENSP00000560523.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 868,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890464.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2286T>A",
"hgvs_p": "p.Leu762Leu",
"transcript": "ENST00000970715.1",
"protein_id": "ENSP00000640774.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 860,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970715.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2274T>A",
"hgvs_p": "p.Leu758Leu",
"transcript": "ENST00000917321.1",
"protein_id": "ENSP00000587380.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 856,
"cds_start": 2274,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917321.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2253T>A",
"hgvs_p": "p.Leu751Leu",
"transcript": "ENST00000890468.1",
"protein_id": "ENSP00000560527.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 849,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890468.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2250T>A",
"hgvs_p": "p.Leu750Leu",
"transcript": "ENST00000917319.1",
"protein_id": "ENSP00000587378.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 848,
"cds_start": 2250,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917319.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2226T>A",
"hgvs_p": "p.Leu742Leu",
"transcript": "ENST00000890471.1",
"protein_id": "ENSP00000560530.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 840,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890471.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2226T>A",
"hgvs_p": "p.Leu742Leu",
"transcript": "ENST00000890484.1",
"protein_id": "ENSP00000560543.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 840,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890484.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2226T>A",
"hgvs_p": "p.Leu742Leu",
"transcript": "ENST00000970714.1",
"protein_id": "ENSP00000640773.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 840,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970714.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2223T>A",
"hgvs_p": "p.Leu741Leu",
"transcript": "ENST00000890474.1",
"protein_id": "ENSP00000560533.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 839,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890474.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2223T>A",
"hgvs_p": "p.Leu741Leu",
"transcript": "ENST00000890475.1",
"protein_id": "ENSP00000560534.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 839,
"cds_start": 2223,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890475.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2217T>A",
"hgvs_p": "p.Leu739Leu",
"transcript": "ENST00000917329.1",
"protein_id": "ENSP00000587388.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917329.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2202T>A",
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"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001350626.2",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2349T>A",
"hgvs_p": "p.Leu783Leu"
}
],
"clinvar_disease": "BRAT1-related disorder,Neonatal-onset encephalopathy with rigidity and seizures,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|Neonatal-onset encephalopathy with rigidity and seizures|BRAT1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}