← Back to variant description
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: 2-181548719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=181548719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 181548719,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000410087.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_201548.5",
"protein_id": "NP_963842.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 532,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": "ENST00000410087.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000410087.8",
"protein_id": "ENSP00000386725.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 532,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": "NM_201548.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371Gln",
"transcript": "ENST00000339098.9",
"protein_id": "ENSP00000341159.5",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 558,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276Gln",
"transcript": "ENST00000374970.6",
"protein_id": "ENSP00000364109.2",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 463,
"cds_start": 827,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "ENST00000374969.6",
"protein_id": "ENSP00000364108.2",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 419,
"cds_start": 695,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000374967.6",
"protein_id": "ENSP00000364106.2",
"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": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000452174.5",
"protein_id": "ENSP00000409198.1",
"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": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000374967.6",
"protein_id": "ENSP00000364106.2",
"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": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000452174.5",
"protein_id": "ENSP00000409198.1",
"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": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371Gln",
"transcript": "NM_001030311.3",
"protein_id": "NP_001025482.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 558,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Arg327Gln",
"transcript": "NM_001160277.2",
"protein_id": "NP_001153749.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 514,
"cds_start": 980,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Arg327Gln",
"transcript": "ENST00000409440.7",
"protein_id": "ENSP00000387080.3",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 514,
"cds_start": 980,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276Gln",
"transcript": "NM_001030313.3",
"protein_id": "NP_001025484.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 463,
"cds_start": 827,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "NM_001030312.3",
"protein_id": "NP_001025483.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 419,
"cds_start": 695,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Arg93Gln",
"transcript": "ENST00000684145.1",
"protein_id": "ENSP00000508396.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 280,
"cds_start": 278,
"cds_end": null,
"cds_length": 843,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "c.419G>A",
"hgvs_p": "p.Arg140Gln",
"transcript": "ENST00000479558.5",
"protein_id": "ENSP00000507265.1",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 239,
"cds_start": 419,
"cds_end": null,
"cds_length": 722,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000421817.5",
"protein_id": "ENSP00000411466.1",
"transcript_support_level": 2,
"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": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.1034G>A",
"hgvs_p": null,
"transcript": "ENST00000494398.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.937G>A",
"hgvs_p": null,
"transcript": "NR_027689.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.1069G>A",
"hgvs_p": null,
"transcript": "NR_027690.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"hgvs_c": "n.*316G>A",
"hgvs_p": null,
"transcript": "ENST00000421817.5",
"protein_id": "ENSP00000411466.1",
"transcript_support_level": 2,
"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": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CERKL",
"gene_hgnc_id": 21699,
"dbsnp": "rs727503856",
"frequency_reference_population": 0.0000049570226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478896,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.85562664270401,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.559,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.715,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000410087.8",
"gene_symbol": "CERKL",
"hgnc_id": 21699,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln"
}
],
"clinvar_disease": "Retinitis pigmentosa 26,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Retinitis pigmentosa 26",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}