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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: 2-177231497-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177231497&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177231497,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397062.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "NM_006164.5",
"protein_id": "NP_006155.2",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 605,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000397062.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Ile",
"transcript": "ENST00000397062.8",
"protein_id": "ENSP00000380252.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 605,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_006164.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Thr353Ile",
"transcript": "ENST00000397063.9",
"protein_id": "ENSP00000380253.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 589,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Thr353Ile",
"transcript": "ENST00000421929.6",
"protein_id": "ENSP00000412191.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 589,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Thr353Ile",
"transcript": "ENST00000448782.6",
"protein_id": "ENSP00000400073.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 589,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Thr346Ile",
"transcript": "ENST00000446151.6",
"protein_id": "ENSP00000411575.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 582,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.2245C>T",
"hgvs_p": null,
"transcript": "ENST00000423513.6",
"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": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.2527C>T",
"hgvs_p": null,
"transcript": "ENST00000477534.2",
"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": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Ile",
"transcript": "ENST00000699346.1",
"protein_id": "ENSP00000514321.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 651,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000586532.6",
"protein_id": "ENSP00000464920.2",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699265.1",
"protein_id": "ENSP00000514246.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699301.1",
"protein_id": "ENSP00000514281.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699303.1",
"protein_id": "ENSP00000514283.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699304.1",
"protein_id": "ENSP00000514284.1",
"transcript_support_level": null,
"aa_start": 368,
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"cds_start": 1103,
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"cdna_start": 1736,
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"cdna_length": 2522,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699305.1",
"protein_id": "ENSP00000514285.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699331.1",
"protein_id": "ENSP00000514305.1",
"transcript_support_level": null,
"aa_start": 368,
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"cds_start": 1103,
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"cdna_start": 1848,
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"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699345.1",
"protein_id": "ENSP00000514320.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699348.1",
"protein_id": "ENSP00000514323.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
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"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699350.1",
"protein_id": "ENSP00000514324.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
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"cds_start": 1103,
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"cdna_start": 1531,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699406.1",
"protein_id": "ENSP00000514367.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
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"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699410.1",
"protein_id": "ENSP00000514371.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Thr368Ile",
"transcript": "ENST00000699435.1",
"protein_id": "ENSP00000514387.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 604,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
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{
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}