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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: 12-88121135-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=88121135&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 88121135,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_025114.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "NM_025114.4",
"protein_id": "NP_079390.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2479,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000552810.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025114.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000552810.6",
"protein_id": "ENSP00000448012.1",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 2479,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025114.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552810.6"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.385_386delAT",
"hgvs_p": "p.Met129fs",
"transcript": "ENST00000604024.5",
"protein_id": "ENSP00000473863.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 857,
"cds_start": 385,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604024.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "n.1219_1220delAT",
"hgvs_p": null,
"transcript": "ENST00000547926.7",
"protein_id": "ENSP00000448573.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000547926.7"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000675476.1",
"protein_id": "ENSP00000502161.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2766,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675476.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000675833.1",
"protein_id": "ENSP00000502559.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2735,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675833.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000309041.12",
"protein_id": "ENSP00000308021.8",
"transcript_support_level": 5,
"aa_start": 407,
"aa_end": null,
"aa_length": 2482,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309041.12"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1198_1199delAT",
"hgvs_p": "p.Met400fs",
"transcript": "ENST00000675230.1",
"protein_id": "ENSP00000502503.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 2472,
"cds_start": 1198,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675230.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1144_1145delAT",
"hgvs_p": "p.Met382fs",
"transcript": "ENST00000940537.1",
"protein_id": "ENSP00000610596.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 2454,
"cds_start": 1144,
"cds_end": null,
"cds_length": 7365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940537.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000673058.2",
"protein_id": "ENSP00000500665.2",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2438,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673058.2"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "ENST00000675408.1",
"protein_id": "ENSP00000502298.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2424,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675408.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1198_1199delAT",
"hgvs_p": "p.Met400fs",
"transcript": "ENST00000940538.1",
"protein_id": "ENSP00000610597.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 2417,
"cds_start": 1198,
"cds_end": null,
"cds_length": 7254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940538.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1165_1166delAT",
"hgvs_p": "p.Met389fs",
"transcript": "ENST00000397838.8",
"protein_id": "ENSP00000380938.5",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 589,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397838.8"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538756.4",
"protein_id": "XP_011537058.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2769,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538756.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538757.4",
"protein_id": "XP_011537059.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2769,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538757.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538758.4",
"protein_id": "XP_011537060.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2768,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538758.4"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538759.3",
"protein_id": "XP_011537061.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2766,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538759.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538760.3",
"protein_id": "XP_011537062.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2728,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538760.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_017019980.3",
"protein_id": "XP_016875469.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2725,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019980.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_011538761.3",
"protein_id": "XP_011537063.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2714,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538761.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_017019981.3",
"protein_id": "XP_016875470.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2711,
"cds_start": 1219,
"cds_end": null,
"cds_length": 8136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019981.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs",
"transcript": "XM_017019982.2",
"protein_id": "XP_016875471.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2612,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7839,
"cdna_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676351.1"
}
],
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"dbsnp": "rs386834148",
"frequency_reference_population": 0.000041536325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000396983,
"gnomad_genomes_af": 0.0000591996,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.397,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_025114.4",
"gene_symbol": "CEP290",
"hgnc_id": 29021,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1219_1220delAT",
"hgvs_p": "p.Met407fs"
}
],
"clinvar_disease": " type 4,Bardet-Biedl syndrome 14,CEP290-related ciliopathy,CEP290-related disorder,Joubert syndrome,Joubert syndrome 5,Leber congenital amaurosis,Leber congenital amaurosis 10,Meckel syndrome,Meckel-Gruber syndrome,Nephronophthisis,Retinal dystrophy,Senior-Loken syndrome 6,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:12 O:1",
"phenotype_combined": "Meckel syndrome, type 4|Joubert syndrome 5|Retinal dystrophy|Nephronophthisis;Joubert syndrome;Meckel-Gruber syndrome|not provided|Leber congenital amaurosis 10|Leber congenital amaurosis|Bardet-Biedl syndrome 14|CEP290-related ciliopathy|CEP290-related disorder|Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5;Leber congenital amaurosis 10;Meckel syndrome, type 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}