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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: 5-143282014-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=143282014&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 143282014,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394464.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_000176.3",
"protein_id": "NP_000167.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 6778,
"mane_select": "ENST00000394464.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "ENST00000394464.7",
"protein_id": "ENSP00000377977.2",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 6778,
"mane_select": "NM_000176.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "ENST00000231509.7",
"protein_id": "ENSP00000231509.3",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "ENST00000504572.5",
"protein_id": "ENSP00000422518.1",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "ENST00000503201.1",
"protein_id": "ENSP00000427672.1",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2131T>C",
"hgvs_p": "p.Phe711Leu",
"transcript": "ENST00000424646.6",
"protein_id": "ENSP00000405282.2",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 751,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2181+554T>C",
"hgvs_p": null,
"transcript": "ENST00000415690.6",
"protein_id": "ENSP00000387672.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "NM_001024094.2",
"protein_id": "NP_001019265.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 6781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "NM_001364183.2",
"protein_id": "NP_001351112.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "NM_001364184.2",
"protein_id": "NP_001351113.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "NM_001364185.1",
"protein_id": "NP_001351114.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2212T>C",
"hgvs_p": "p.Phe738Leu",
"transcript": "ENST00000394466.6",
"protein_id": "ENSP00000377979.2",
"transcript_support_level": 5,
"aa_start": 738,
"aa_end": null,
"aa_length": 778,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001018074.1",
"protein_id": "NP_001018084.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 6614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001018075.1",
"protein_id": "NP_001018085.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
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"cdna_start": 2434,
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"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001018076.2",
"protein_id": "NP_001018086.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001018077.1",
"protein_id": "NP_001018087.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
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"cds_start": 2209,
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"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001364180.2",
"protein_id": "NP_001351109.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001364181.2",
"protein_id": "NP_001351110.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
"cds_end": null,
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"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "NM_001364182.1",
"protein_id": "NP_001351111.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
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"cdna_start": 2904,
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"cdna_length": 6982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Phe737Leu",
"transcript": "ENST00000343796.6",
"protein_id": "ENSP00000343205.2",
"transcript_support_level": 5,
"aa_start": 737,
"aa_end": null,
"aa_length": 777,
"cds_start": 2209,
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"cdna_start": 3203,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2131T>C",
"hgvs_p": "p.Phe711Leu",
"transcript": "NM_001204258.2",
"protein_id": "NP_001191187.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 751,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 6778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2116T>C",
"hgvs_p": "p.Phe706Leu",
"transcript": "ENST00000652686.1",
"protein_id": "ENSP00000498663.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 746,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
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"verdict": "Likely_pathogenic",
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Glucocorticoid resistance",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}