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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: 2-177234226-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177234226&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177234226,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000397062.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Gly31*",
"transcript": "NM_006164.5",
"protein_id": "NP_006155.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 605,
"cds_start": 91,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000397062.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Gly31*",
"transcript": "ENST00000397062.8",
"protein_id": "ENSP00000380252.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 605,
"cds_start": 91,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_006164.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Gly15*",
"transcript": "ENST00000397063.9",
"protein_id": "ENSP00000380253.4",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Gly15*",
"transcript": "ENST00000421929.6",
"protein_id": "ENSP00000412191.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Gly15*",
"transcript": "ENST00000448782.6",
"protein_id": "ENSP00000400073.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 589,
"cds_start": 43,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Gly15*",
"transcript": "ENST00000446151.6",
"protein_id": "ENSP00000411575.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 582,
"cds_start": 43,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 216,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.181G>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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.181G>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.-139G>T",
"hgvs_p": null,
"transcript": "NM_001313904.1",
"protein_id": "NP_001300833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77*",
"transcript": "ENST00000699346.1",
"protein_id": "ENSP00000514321.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 651,
"cds_start": 229,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000586532.6",
"protein_id": "ENSP00000464920.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699265.1",
"protein_id": "ENSP00000514246.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699301.1",
"protein_id": "ENSP00000514281.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699303.1",
"protein_id": "ENSP00000514283.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699304.1",
"protein_id": "ENSP00000514284.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699305.1",
"protein_id": "ENSP00000514285.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699331.1",
"protein_id": "ENSP00000514305.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699345.1",
"protein_id": "ENSP00000514320.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699348.1",
"protein_id": "ENSP00000514323.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699350.1",
"protein_id": "ENSP00000514324.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699406.1",
"protein_id": "ENSP00000514367.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699410.1",
"protein_id": "ENSP00000514371.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 604,
"cds_start": 88,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Gly30*",
"transcript": "ENST00000699435.1",
"protein_id": "ENSP00000514387.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
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{
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{
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{
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],
"gene_symbol": "NFE2L2",
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"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000397062.8",
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.91G>T",
"hgvs_p": "p.Gly31*"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}