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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: 11-126276476-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126276476&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126276476,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263578.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_017547.4",
"protein_id": "NP_060017.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 486,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "ENST00000263578.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000263578.10",
"protein_id": "ENSP00000263578.5",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 486,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1107,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "n.1366C>T",
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Trp",
"transcript": "NM_001425160.1",
"protein_id": "NP_001412089.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 496,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "ENST00000692336.1",
"protein_id": "ENSP00000508540.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 494,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_001425161.1",
"protein_id": "NP_001412090.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 486,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_001425163.1",
"protein_id": "NP_001412092.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 485,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "NM_001425164.1",
"protein_id": "NP_001412093.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 485,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "ENST00000532125.2",
"protein_id": "ENSP00000434178.2",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 485,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_001425165.1",
"protein_id": "NP_001412094.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 484,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_001425166.1",
"protein_id": "NP_001412095.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 470,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "NM_001425167.1",
"protein_id": "NP_001412096.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 452,
"cds_start": 952,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000685484.1",
"protein_id": "ENSP00000510622.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 420,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "NM_001425168.1",
"protein_id": "NP_001412097.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 316,
"cds_start": 544,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "NM_001425169.1",
"protein_id": "NP_001412098.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 316,
"cds_start": 544,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "NM_001425170.1",
"protein_id": "NP_001412099.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 316,
"cds_start": 544,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Trp",
"transcript": "NM_001425171.1",
"protein_id": "NP_001412100.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 299,
"cds_start": 493,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Trp",
"transcript": "NM_001425172.1",
"protein_id": "NP_001412101.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 299,
"cds_start": 493,
"cds_end": null,
"cds_length": 900,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001425173.1",
"protein_id": "NP_001412102.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 275,
"cds_start": 421,
"cds_end": null,
"cds_length": 828,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001425174.1",
"protein_id": "NP_001412103.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 275,
"cds_start": 421,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001425175.1",
"protein_id": "NP_001412104.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 274,
"cds_start": 421,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Arg136Trp",
"transcript": "ENST00000533839.6",
"protein_id": "ENSP00000509952.1",
"transcript_support_level": 4,
"aa_start": 136,
"aa_end": null,
"aa_length": 270,
"cds_start": 406,
"cds_end": null,
"cds_length": 813,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Trp",
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"verdict": "Pathogenic",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": " nuclear type 19,Inborn genetic diseases,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 19|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}