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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: 5-42801033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=42801033&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 42801033,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000514985.6",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_005410.4",
"protein_id": "NP_005401.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 833,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": "ENST00000514985.6",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000514985.6",
"protein_id": "ENSP00000420939.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 833,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": "NM_005410.4",
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000506577.5",
"protein_id": "ENSP00000425915.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 833,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2204,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000511224.5",
"protein_id": "ENSP00000427671.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 833,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC152",
"gene_hgnc_id": 34438,
"hgvs_c": "c.*1252C>T",
"hgvs_p": null,
"transcript": "NM_001134848.2",
"protein_id": "NP_001128320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": "ENST00000361970.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC152",
"gene_hgnc_id": 34438,
"hgvs_c": "c.*1252C>T",
"hgvs_p": null,
"transcript": "ENST00000361970.10",
"protein_id": "ENSP00000354888.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": "NM_001134848.2",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001093726.3",
"protein_id": "NP_001087195.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 411,
"cds_start": 923,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2144,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001085486.3",
"protein_id": "NP_001078955.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 381,
"cds_start": 833,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2085,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000514218.5",
"protein_id": "ENSP00000421626.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 309,
"cds_start": 833,
"cds_end": null,
"cds_length": 932,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000507920.5",
"protein_id": "ENSP00000473340.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 171,
"cds_start": 502,
"cds_end": null,
"cds_length": 516,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 786,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "n.633G>A",
"hgvs_p": null,
"transcript": "ENST00000509276.5",
"protein_id": null,
"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": 738,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "n.3025G>A",
"hgvs_p": null,
"transcript": "ENST00000512980.5",
"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": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC152",
"gene_hgnc_id": 34438,
"hgvs_c": "c.*1252C>T",
"hgvs_p": null,
"transcript": "XM_047416584.1",
"protein_id": "XP_047272540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "c.*205G>A",
"hgvs_p": null,
"transcript": "ENST00000510965.1",
"protein_id": "ENSP00000427414.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "n.*72G>A",
"hgvs_p": null,
"transcript": "ENST00000513303.5",
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"hgvs_c": "n.*167G>A",
"hgvs_p": null,
"transcript": "ENST00000514403.1",
"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": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SELENOP",
"gene_hgnc_id": 10751,
"dbsnp": "rs28919923",
"frequency_reference_population": 0.00032027654,
"hom_count_reference_population": 1,
"allele_count_reference_population": 517,
"gnomad_exomes_af": 0.000305086,
"gnomad_genomes_af": 0.000466044,
"gnomad_exomes_ac": 446,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003222733736038208,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.911,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000514985.6",
"gene_symbol": "SELENOP",
"hgnc_id": 10751,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000361970.10",
"gene_symbol": "CCDC152",
"hgnc_id": 34438,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1252C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}