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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: 11-126275389-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126275389&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126275389,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001425160.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "NM_017547.4",
"protein_id": "NP_060017.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 486,
"cds_start": 694,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263578.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017547.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000263578.10",
"protein_id": "ENSP00000263578.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 486,
"cds_start": 694,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017547.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263578.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"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.1006C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534315.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.724C>T",
"hgvs_p": "p.Gln242*",
"transcript": "NM_001425160.1",
"protein_id": "NP_001412089.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 496,
"cds_start": 724,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425160.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.724C>T",
"hgvs_p": "p.Gln242*",
"transcript": "ENST00000853296.1",
"protein_id": "ENSP00000523355.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 496,
"cds_start": 724,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853296.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.724C>T",
"hgvs_p": "p.Gln242*",
"transcript": "ENST00000853299.1",
"protein_id": "ENSP00000523358.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 495,
"cds_start": 724,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853299.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.718C>T",
"hgvs_p": "p.Gln240*",
"transcript": "ENST00000692336.1",
"protein_id": "ENSP00000508540.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 494,
"cds_start": 718,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692336.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000853294.1",
"protein_id": "ENSP00000523353.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 492,
"cds_start": 694,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853294.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.691C>T",
"hgvs_p": "p.Gln231*",
"transcript": "ENST00000965172.1",
"protein_id": "ENSP00000635231.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 491,
"cds_start": 691,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965172.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "NM_001425161.1",
"protein_id": "NP_001412090.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 486,
"cds_start": 694,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425161.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000914550.1",
"protein_id": "ENSP00000584609.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 486,
"cds_start": 694,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914550.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "NM_001425163.1",
"protein_id": "NP_001412092.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 485,
"cds_start": 694,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425163.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.691C>T",
"hgvs_p": "p.Gln231*",
"transcript": "NM_001425164.1",
"protein_id": "NP_001412093.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 485,
"cds_start": 691,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425164.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.691C>T",
"hgvs_p": "p.Gln231*",
"transcript": "ENST00000532125.2",
"protein_id": "ENSP00000434178.2",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 485,
"cds_start": 691,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532125.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000853292.1",
"protein_id": "ENSP00000523351.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 485,
"cds_start": 694,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853292.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.691C>T",
"hgvs_p": "p.Gln231*",
"transcript": "ENST00000914554.1",
"protein_id": "ENSP00000584613.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 485,
"cds_start": 691,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914554.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "NM_001425165.1",
"protein_id": "NP_001412094.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 484,
"cds_start": 694,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425165.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000965171.1",
"protein_id": "ENSP00000635230.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 484,
"cds_start": 694,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965171.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.691C>T",
"hgvs_p": "p.Gln231*",
"transcript": "ENST00000965178.1",
"protein_id": "ENSP00000635237.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 484,
"cds_start": 691,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965178.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000965173.1",
"protein_id": "ENSP00000635232.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 474,
"cds_start": 694,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965173.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "NM_001425166.1",
"protein_id": "NP_001412095.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 470,
"cds_start": 694,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425166.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.694C>T",
"hgvs_p": "p.Gln232*",
"transcript": "ENST00000853291.1",
"protein_id": "ENSP00000523350.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 470,
"cds_start": 694,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853291.1"
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 19|not provided|Leigh syndrome|FOXRED1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}