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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: 2-64094992-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=64094992&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 64094992,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020651.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "NM_020651.4",
"protein_id": "NP_065702.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020651.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000358912.5",
"protein_id": "ENSP00000351789.4",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020651.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358912.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Lys346Glu",
"transcript": "ENST00000903228.1",
"protein_id": "ENSP00000573287.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 441,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903228.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Lys330Glu",
"transcript": "ENST00000924986.1",
"protein_id": "ENSP00000595045.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 425,
"cds_start": 988,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924986.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000903230.1",
"protein_id": "ENSP00000573289.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903230.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000903231.1",
"protein_id": "ENSP00000573290.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903231.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000924988.1",
"protein_id": "ENSP00000595047.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924988.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000924989.1",
"protein_id": "ENSP00000595048.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924989.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000942852.1",
"protein_id": "ENSP00000612911.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942852.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "ENST00000942853.1",
"protein_id": "ENSP00000612912.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942853.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Lys322Glu",
"transcript": "ENST00000903229.1",
"protein_id": "ENSP00000573288.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 417,
"cds_start": 964,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903229.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Lys322Glu",
"transcript": "ENST00000942854.1",
"protein_id": "ENSP00000612913.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 417,
"cds_start": 964,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942854.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.865A>G",
"hgvs_p": "p.Lys289Glu",
"transcript": "ENST00000924987.1",
"protein_id": "ENSP00000595046.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 384,
"cds_start": 865,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924987.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Lys190Glu",
"transcript": "ENST00000924985.1",
"protein_id": "ENSP00000595044.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 285,
"cds_start": 568,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924985.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "XM_011532994.4",
"protein_id": "XP_011531296.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532994.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "XM_017004520.2",
"protein_id": "XP_016860009.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004520.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "XM_047445137.1",
"protein_id": "XP_047301093.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445137.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu",
"transcript": "XM_047445139.1",
"protein_id": "XP_047301095.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 418,
"cds_start": 967,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445139.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "XM_047445140.1",
"protein_id": "XP_047301096.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 352,
"cds_start": 769,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445140.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"transcript": "XM_011532997.3",
"protein_id": "XP_011531299.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 239,
"cds_start": 430,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532997.3"
}
],
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"dbsnp": "rs138154902",
"frequency_reference_population": 0.0000065638333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656383,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10556674003601074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.2264,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.379,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020651.4",
"gene_symbol": "PELI1",
"hgnc_id": 8827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Lys323Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}