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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: 11-117409675-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117409675&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117409675,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000278935.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3806G>A",
"hgvs_p": "p.Arg1269Gln",
"transcript": "NM_014956.5",
"protein_id": "NP_055771.4",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "ENST00000278935.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3806G>A",
"hgvs_p": "p.Arg1269Gln",
"transcript": "ENST00000278935.8",
"protein_id": "ENSP00000278935.3",
"transcript_support_level": 1,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": "NM_014956.5",
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "n.4664G>A",
"hgvs_p": null,
"transcript": "ENST00000533223.1",
"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": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3812G>A",
"hgvs_p": "p.Arg1271Gln",
"transcript": "NM_001440949.1",
"protein_id": "NP_001427878.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1462,
"cds_start": 3812,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 4264,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3806G>A",
"hgvs_p": "p.Arg1269Gln",
"transcript": "NM_001440950.1",
"protein_id": "NP_001427879.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3806G>A",
"hgvs_p": "p.Arg1269Gln",
"transcript": "NM_001440951.1",
"protein_id": "NP_001427880.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1460,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4383,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 5857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3797G>A",
"hgvs_p": "p.Arg1266Gln",
"transcript": "NM_001440952.1",
"protein_id": "NP_001427881.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3797,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Arg1264Gln",
"transcript": "NM_001271933.2",
"protein_id": "NP_001258862.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3791,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3872,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3782G>A",
"hgvs_p": "p.Arg1261Gln",
"transcript": "NM_001440953.1",
"protein_id": "NP_001427882.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3782,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3728G>A",
"hgvs_p": "p.Arg1243Gln",
"transcript": "NM_001440954.1",
"protein_id": "NP_001427883.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3728,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 4180,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3728G>A",
"hgvs_p": "p.Arg1243Gln",
"transcript": "NM_001440955.1",
"protein_id": "NP_001427884.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3728,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3719G>A",
"hgvs_p": "p.Arg1240Gln",
"transcript": "NM_001440956.1",
"protein_id": "NP_001427885.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3719,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 4171,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Arg1239Gln",
"transcript": "NM_001440957.1",
"protein_id": "NP_001427886.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3716,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4092,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3704G>A",
"hgvs_p": "p.Arg1235Gln",
"transcript": "NM_001440958.1",
"protein_id": "NP_001427887.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4156,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3704G>A",
"hgvs_p": "p.Arg1235Gln",
"transcript": "NM_001440959.1",
"protein_id": "NP_001427888.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3677G>A",
"hgvs_p": "p.Arg1226Gln",
"transcript": "NM_001440960.1",
"protein_id": "NP_001427889.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4164,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3668G>A",
"hgvs_p": "p.Arg1223Gln",
"transcript": "NM_001440961.1",
"protein_id": "NP_001427890.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3668,
"cds_end": null,
"cds_length": 4245,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Arg1220Gln",
"transcript": "NM_001440962.1",
"protein_id": "NP_001427891.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3659,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4111,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Arg1220Gln",
"transcript": "NM_001440963.1",
"protein_id": "NP_001427892.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3659,
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"cds_length": 4236,
"cdna_start": 4035,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3656G>A",
"hgvs_p": "p.Arg1219Gln",
"transcript": "NM_001440964.1",
"protein_id": "NP_001427893.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3656,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3656G>A",
"hgvs_p": "p.Arg1219Gln",
"transcript": "NM_001440965.1",
"protein_id": "NP_001427894.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3656,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4032,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.3656G>A",
"hgvs_p": "p.Arg1219Gln",
"transcript": "NM_001440966.1",
"protein_id": "NP_001427895.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3656,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
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],
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"computational_score_selected": 0.006563961505889893,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.663,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -16,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -16,
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"pathogenic_score": 0,
"criteria": [
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"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000278935.8",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "CEP164-related disorder,Nephronophthisis 15,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Nephronophthisis 15|CEP164-related disorder|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}