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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: 11-126275327-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126275327&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126275327,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000263578.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "NM_017547.4",
"protein_id": "NP_060017.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 486,
"cds_start": 632,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "ENST00000263578.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "ENST00000263578.10",
"protein_id": "ENSP00000263578.5",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 486,
"cds_start": 632,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "NM_017547.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "n.944G>A",
"hgvs_p": null,
"transcript": "ENST00000534315.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Gly221Glu",
"transcript": "NM_001425160.1",
"protein_id": "NP_001412089.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 496,
"cds_start": 662,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Gly219Glu",
"transcript": "ENST00000692336.1",
"protein_id": "ENSP00000508540.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 494,
"cds_start": 656,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "NM_001425161.1",
"protein_id": "NP_001412090.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 486,
"cds_start": 632,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "NM_001425163.1",
"protein_id": "NP_001412092.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 485,
"cds_start": 632,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Gly210Glu",
"transcript": "NM_001425164.1",
"protein_id": "NP_001412093.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 485,
"cds_start": 629,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Gly210Glu",
"transcript": "ENST00000532125.2",
"protein_id": "ENSP00000434178.2",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 485,
"cds_start": 629,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "NM_001425165.1",
"protein_id": "NP_001412094.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 484,
"cds_start": 632,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "NM_001425166.1",
"protein_id": "NP_001412095.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 470,
"cds_start": 632,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "ENST00000685484.1",
"protein_id": "ENSP00000510622.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 420,
"cds_start": 632,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu",
"transcript": "ENST00000688588.1",
"protein_id": "ENSP00000510802.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 632,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Gly41Glu",
"transcript": "NM_001425168.1",
"protein_id": "NP_001412097.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 316,
"cds_start": 122,
"cds_end": null,
"cds_length": 951,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Gly41Glu",
"transcript": "NM_001425169.1",
"protein_id": "NP_001412098.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 316,
"cds_start": 122,
"cds_end": null,
"cds_length": 951,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Gly41Glu",
"transcript": "NM_001425170.1",
"protein_id": "NP_001412099.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 316,
"cds_start": 122,
"cds_end": null,
"cds_length": 951,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Gly24Glu",
"transcript": "NM_001425171.1",
"protein_id": "NP_001412100.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 299,
"cds_start": 71,
"cds_end": null,
"cds_length": 900,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Gly24Glu",
"transcript": "NM_001425172.1",
"protein_id": "NP_001412101.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 299,
"cds_start": 71,
"cds_end": null,
"cds_length": 900,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "NM_001425173.1",
"protein_id": "NP_001412102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "NM_001425174.1",
"protein_id": "NP_001412103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.-2G>A",
"hgvs_p": null,
"transcript": "NM_001425175.1",
"protein_id": "NP_001412104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Gly197Glu",
"transcript": "XM_047427252.1",
"protein_id": "XP_047283208.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 471,
"cds_start": 590,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263578.10",
"gene_symbol": "FOXRED1",
"hgnc_id": 26927,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Gly211Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}