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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: 13-97985663-C-CTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=97985663&ref=C&alt=CTTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "IPO5",
"hgnc_id": 6402,
"hgvs_c": "c.364+62_364+64dupTTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002271.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002271.6",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+62_364+64dupTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651721.2",
"protein_coding": true,
"protein_id": "NP_002262.4",
"strand": true,
"transcript": "NM_002271.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651721.2",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002271.6",
"protein_coding": true,
"protein_id": "ENSP00000499125.1",
"strand": true,
"transcript": "ENST00000651721.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261574.10",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+50_418+51insTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261574.5",
"strand": true,
"transcript": "ENST00000261574.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490680.5",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418393.1",
"strand": true,
"transcript": "ENST00000490680.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1098,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469360.5",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.367+50_367+51insTTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419764.1",
"strand": true,
"transcript": "ENST00000469360.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357602.7",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350219.3",
"strand": true,
"transcript": "ENST00000357602.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929020.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599079.1",
"strand": true,
"transcript": "ENST00000929020.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1097,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929021.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599080.1",
"strand": true,
"transcript": "ENST00000929021.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1094,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": null,
"cds_end": null,
"cds_length": 3285,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929022.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599081.1",
"strand": true,
"transcript": "ENST00000929022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 169,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": null,
"cds_end": null,
"cds_length": 512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475420.5",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+50_364+51insTTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420079.1",
"strand": true,
"transcript": "ENST00000475420.5",
"transcript_support_level": 4
},
{
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"aa_length": 150,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 547,
"cdna_start": null,
"cds_end": null,
"cds_length": 454,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000403772.8",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.184+50_184+51insTTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385938.4",
"strand": true,
"transcript": "ENST00000403772.8",
"transcript_support_level": 4
},
{
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"aa_length": 1115,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5922,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "XM_005254052.4",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005254109.1",
"strand": true,
"transcript": "XM_005254052.4",
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},
{
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"consequences": [
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],
"exon_count": 30,
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"feature": "XM_011521087.3",
"gene_hgnc_id": 6402,
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"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011519389.1",
"strand": true,
"transcript": "XM_011521087.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011521088.3",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519390.1",
"strand": true,
"transcript": "XM_011521088.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "XM_011521089.3",
"gene_hgnc_id": 6402,
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"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011519391.1",
"strand": true,
"transcript": "XM_011521089.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020562.2",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876051.1",
"strand": true,
"transcript": "XM_017020562.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024449346.2",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024305114.1",
"strand": true,
"transcript": "XM_024449346.2",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "XM_047430296.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
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"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286252.1",
"strand": true,
"transcript": "XM_047430296.1",
"transcript_support_level": null
},
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "XM_047430297.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286253.1",
"strand": true,
"transcript": "XM_047430297.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430298.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.418+62_418+64dupTTT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286254.1",
"strand": true,
"transcript": "XM_047430298.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3294,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430299.1",
"gene_hgnc_id": 6402,
"gene_symbol": "IPO5",
"hgvs_c": "c.364+62_364+64dupTTT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286255.1",
"strand": true,
"transcript": "XM_047430299.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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