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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: 11-95790723-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95790723&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95790723,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000325542.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_014679.5",
"protein_id": "NP_055494.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 500,
"cds_start": 25,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000325542.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "ENST00000325542.10",
"protein_id": "ENSP00000317902.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 500,
"cds_start": 25,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "ENST00000325486.9",
"protein_id": "ENSP00000317487.5",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 474,
"cds_start": 25,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "ENST00000538658.5",
"protein_id": "ENSP00000445706.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 270,
"cds_start": 25,
"cds_end": null,
"cds_length": 813,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001243777.2",
"protein_id": "NP_001230706.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 474,
"cds_start": 25,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440871.1",
"protein_id": "NP_001427800.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 464,
"cds_start": 25,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440872.1",
"protein_id": "NP_001427801.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 461,
"cds_start": 25,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440873.1",
"protein_id": "NP_001427802.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 440,
"cds_start": 25,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440874.1",
"protein_id": "NP_001427803.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 438,
"cds_start": 25,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440876.1",
"protein_id": "NP_001427805.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 435,
"cds_start": 25,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440879.1",
"protein_id": "NP_001427808.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 425,
"cds_start": 25,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440881.1",
"protein_id": "NP_001427810.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 401,
"cds_start": 25,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"transcript": "NM_001440882.1",
"protein_id": "NP_001427811.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 399,
"cds_start": 25,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000535497.1",
"protein_id": "ENSP00000442481.1",
"transcript_support_level": 3,
"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": 446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000538095.1",
"protein_id": "ENSP00000443866.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000539855.5",
"protein_id": "ENSP00000437422.1",
"transcript_support_level": 5,
"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": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-47G>A",
"hgvs_p": null,
"transcript": "NM_001243776.2",
"protein_id": "NP_001230705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-370G>A",
"hgvs_p": null,
"transcript": "NM_001363604.2",
"protein_id": "NP_001350533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-52G>A",
"hgvs_p": null,
"transcript": "NM_001440870.1",
"protein_id": "NP_001427799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-52G>A",
"hgvs_p": null,
"transcript": "NM_001440875.1",
"protein_id": "NP_001427804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-370G>A",
"hgvs_p": null,
"transcript": "NM_001440877.1",
"protein_id": "NP_001427806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.-52G>A",
"hgvs_p": null,
"transcript": "NM_001440878.1",
"protein_id": "NP_001427807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000325542.10",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "Inborn genetic diseases,Mosaic variegated aneuploidy syndrome 2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Mosaic variegated aneuploidy syndrome 2|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}