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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: 7-2538710-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2538710&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2538710,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350626.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1825C>T",
"hgvs_p": "p.Arg609Trp",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 821,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152743.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1825C>T",
"hgvs_p": "p.Arg609Trp",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 821,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340611.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2062C>T",
"hgvs_p": "p.Arg688Trp",
"transcript": "ENST00000890463.1",
"protein_id": "ENSP00000560522.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 900,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890463.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2059C>T",
"hgvs_p": "p.Arg687Trp",
"transcript": "ENST00000917322.1",
"protein_id": "ENSP00000587381.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 899,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917322.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2032C>T",
"hgvs_p": "p.Arg678Trp",
"transcript": "ENST00000890472.1",
"protein_id": "ENSP00000560531.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 890,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890472.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2017C>T",
"hgvs_p": "p.Arg673Trp",
"transcript": "ENST00000917323.1",
"protein_id": "ENSP00000587382.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 885,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917323.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2005C>T",
"hgvs_p": "p.Arg669Trp",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 881,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350626.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2005C>T",
"hgvs_p": "p.Arg669Trp",
"transcript": "ENST00000890462.1",
"protein_id": "ENSP00000560521.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 881,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890462.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2005C>T",
"hgvs_p": "p.Arg669Trp",
"transcript": "ENST00000890481.1",
"protein_id": "ENSP00000560540.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 881,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890481.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2002C>T",
"hgvs_p": "p.Arg668Trp",
"transcript": "ENST00000890470.1",
"protein_id": "ENSP00000560529.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 880,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890470.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1966C>T",
"hgvs_p": "p.Arg656Trp",
"transcript": "ENST00000890464.1",
"protein_id": "ENSP00000560523.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 868,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890464.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1942C>T",
"hgvs_p": "p.Arg648Trp",
"transcript": "ENST00000970715.1",
"protein_id": "ENSP00000640774.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 860,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970715.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1930C>T",
"hgvs_p": "p.Arg644Trp",
"transcript": "ENST00000917321.1",
"protein_id": "ENSP00000587380.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 856,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917321.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1909C>T",
"hgvs_p": "p.Arg637Trp",
"transcript": "ENST00000890468.1",
"protein_id": "ENSP00000560527.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 849,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890468.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1906C>T",
"hgvs_p": "p.Arg636Trp",
"transcript": "ENST00000917319.1",
"protein_id": "ENSP00000587378.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 848,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917319.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1882C>T",
"hgvs_p": "p.Arg628Trp",
"transcript": "ENST00000890471.1",
"protein_id": "ENSP00000560530.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 840,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890471.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1882C>T",
"hgvs_p": "p.Arg628Trp",
"transcript": "ENST00000890484.1",
"protein_id": "ENSP00000560543.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 840,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890484.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1882C>T",
"hgvs_p": "p.Arg628Trp",
"transcript": "ENST00000970714.1",
"protein_id": "ENSP00000640773.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 840,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970714.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1879C>T",
"hgvs_p": "p.Arg627Trp",
"transcript": "ENST00000890474.1",
"protein_id": "ENSP00000560533.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 839,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890474.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1879C>T",
"hgvs_p": "p.Arg627Trp",
"transcript": "ENST00000890475.1",
"protein_id": "ENSP00000560534.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 839,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890475.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1873C>T",
"hgvs_p": "p.Arg625Trp",
"transcript": "ENST00000917329.1",
"protein_id": "ENSP00000587388.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 837,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917329.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1858C>T",
"hgvs_p": "p.Arg620Trp",
"transcript": "ENST00000890476.1",
"protein_id": "ENSP00000560535.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 832,
"cds_start": 1858,
"cds_end": null,
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"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350626.2",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669Trp"
}
],
"clinvar_disease": "Neonatal-onset encephalopathy with rigidity and seizures,Neurodevelopmental disorder with cerebellar atrophy and with or without seizures,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|Neonatal-onset encephalopathy with rigidity and seizures|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}