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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: 11-33774472-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=33774472&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 33774472,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012175.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "NM_012175.4",
"protein_id": "NP_036307.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 471,
"cds_start": 26,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265651.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012175.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000265651.8",
"protein_id": "ENSP00000265651.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 471,
"cds_start": 26,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012175.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265651.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000448981.6",
"protein_id": "ENSP00000408836.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 415,
"cds_start": 26,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448981.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.54C>G",
"hgvs_p": null,
"transcript": "ENST00000530013.5",
"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": "ENST00000530013.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000958856.1",
"protein_id": "ENSP00000628915.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 486,
"cds_start": 26,
"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": "ENST00000958856.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000873667.1",
"protein_id": "ENSP00000543726.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 477,
"cds_start": 26,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873667.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000534136.5",
"protein_id": "ENSP00000431745.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 430,
"cds_start": 26,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534136.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "NM_033406.4",
"protein_id": "NP_208385.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 415,
"cds_start": 26,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033406.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "ENST00000530401.5",
"protein_id": "ENSP00000433781.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 410,
"cds_start": 26,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530401.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "XM_011519980.2",
"protein_id": "XP_011518282.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 479,
"cds_start": 26,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519980.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Ala9Gly",
"transcript": "XM_011519981.3",
"protein_id": "XP_011518283.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 415,
"cds_start": 26,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519981.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.26C>G",
"hgvs_p": null,
"transcript": "ENST00000529137.1",
"protein_id": "ENSP00000431502.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000529137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.26C>G",
"hgvs_p": null,
"transcript": "ENST00000532927.5",
"protein_id": "ENSP00000434099.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000532927.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.-3877C>G",
"hgvs_p": null,
"transcript": "ENST00000526785.5",
"protein_id": "ENSP00000435680.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-108G>C",
"hgvs_p": null,
"transcript": "ENST00000530352.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000530352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-113G>C",
"hgvs_p": null,
"transcript": "ENST00000533046.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000533046.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.-158C>G",
"hgvs_p": null,
"transcript": "ENST00000533103.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000533103.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-125G>C",
"hgvs_p": null,
"transcript": "ENST00000718487.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000718487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-178G>C",
"hgvs_p": null,
"transcript": "ENST00000718488.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000718488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-178G>C",
"hgvs_p": null,
"transcript": "ENST00000718489.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000718489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-205G>C",
"hgvs_p": null,
"transcript": "ENST00000754122.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000754122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
"gene_hgnc_id": 51147,
"hgvs_c": "n.-229G>C",
"hgvs_p": null,
"transcript": "ENST00000754123.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000754123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3-DT",
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_012175.4",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000530352.2",
"gene_symbol": "FBXO3-DT",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-108G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}