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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: 11-126275814-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126275814&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126275814,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263578.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_017547.4",
"protein_id": "NP_060017.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 486,
"cds_start": 754,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": "ENST00000263578.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "ENST00000263578.10",
"protein_id": "ENSP00000263578.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 486,
"cds_start": 754,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 807,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "n.1066C>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": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262Cys",
"transcript": "NM_001425160.1",
"protein_id": "NP_001412089.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 496,
"cds_start": 784,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"transcript": "ENST00000692336.1",
"protein_id": "ENSP00000508540.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 494,
"cds_start": 778,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_001425161.1",
"protein_id": "NP_001412090.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 486,
"cds_start": 754,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_001425163.1",
"protein_id": "NP_001412092.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 754,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "NM_001425164.1",
"protein_id": "NP_001412093.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 485,
"cds_start": 751,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "ENST00000532125.2",
"protein_id": "ENSP00000434178.2",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 485,
"cds_start": 751,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_001425165.1",
"protein_id": "NP_001412094.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 484,
"cds_start": 754,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_001425166.1",
"protein_id": "NP_001412095.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 470,
"cds_start": 754,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.652C>T",
"hgvs_p": "p.Arg218Cys",
"transcript": "NM_001425167.1",
"protein_id": "NP_001412096.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 452,
"cds_start": 652,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "ENST00000685484.1",
"protein_id": "ENSP00000510622.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 420,
"cds_start": 754,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "ENST00000688588.1",
"protein_id": "ENSP00000510802.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 349,
"cds_start": 754,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "NM_001425168.1",
"protein_id": "NP_001412097.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 316,
"cds_start": 244,
"cds_end": null,
"cds_length": 951,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "NM_001425169.1",
"protein_id": "NP_001412098.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 316,
"cds_start": 244,
"cds_end": null,
"cds_length": 951,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "NM_001425170.1",
"protein_id": "NP_001412099.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 316,
"cds_start": 244,
"cds_end": null,
"cds_length": 951,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Cys",
"transcript": "NM_001425171.1",
"protein_id": "NP_001412100.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 299,
"cds_start": 193,
"cds_end": null,
"cds_length": 900,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.193C>T",
"hgvs_p": "p.Arg65Cys",
"transcript": "NM_001425172.1",
"protein_id": "NP_001412101.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 299,
"cds_start": 193,
"cds_end": null,
"cds_length": 900,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Arg41Cys",
"transcript": "NM_001425173.1",
"protein_id": "NP_001412102.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 275,
"cds_start": 121,
"cds_end": null,
"cds_length": 828,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.121C>T",
"hgvs_p": "p.Arg41Cys",
"transcript": "NM_001425174.1",
"protein_id": "NP_001412103.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 275,
"cds_start": 121,
"cds_end": null,
"cds_length": 828,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.121C>T",
"hgvs_p": "p.Arg41Cys",
"transcript": "NM_001425175.1",
"protein_id": "NP_001412104.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 274,
"cds_start": 121,
"cds_end": null,
"cds_length": 825,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED1",
"gene_hgnc_id": 26927,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Cys",
"transcript": "ENST00000533839.6",
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not provided|Mitochondrial complex I deficiency, nuclear type 1;Leigh syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
"message": null
}