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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: 2-64100454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=64100454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 64100454,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020651.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "NM_020651.4",
"protein_id": "NP_065702.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000358912.5",
"protein_id": "ENSP00000351789.4",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.-507C>T",
"hgvs_p": null,
"transcript": "XM_011532997.3",
"protein_id": "XP_011531299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"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"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000903228.1",
"protein_id": "ENSP00000573287.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 441,
"cds_start": 316,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000924986.1",
"protein_id": "ENSP00000595045.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 425,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000903230.1",
"protein_id": "ENSP00000573289.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000903231.1",
"protein_id": "ENSP00000573290.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000924988.1",
"protein_id": "ENSP00000595047.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000924989.1",
"protein_id": "ENSP00000595048.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000942852.1",
"protein_id": "ENSP00000612911.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000942853.1",
"protein_id": "ENSP00000612912.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000903229.1",
"protein_id": "ENSP00000573288.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 417,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000942854.1",
"protein_id": "ENSP00000612913.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 417,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "XM_011532994.4",
"protein_id": "XP_011531296.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "XM_017004520.2",
"protein_id": "XP_016860009.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "XM_047445137.1",
"protein_id": "XP_047301093.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "XM_047445139.1",
"protein_id": "XP_047301095.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 418,
"cds_start": 247,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Trp",
"transcript": "XM_047445140.1",
"protein_id": "XP_047301096.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 352,
"cds_start": 49,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.-507C>T",
"hgvs_p": null,
"transcript": "XM_011532997.3",
"protein_id": "XP_011531299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.202-3844C>T",
"hgvs_p": null,
"transcript": "ENST00000924987.1",
"protein_id": "ENSP00000595046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.53-3992C>T",
"hgvs_p": null,
"transcript": "ENST00000924985.1",
"protein_id": "ENSP00000595044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"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": 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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "n.642C>T",
"hgvs_p": null,
"transcript": "ENST00000466177.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000466177.6"
}
],
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"dbsnp": "rs540173190",
"frequency_reference_population": 0.000015101292,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000160023,
"gnomad_genomes_af": 0.00000657999,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9289297461509705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9788,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.741,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020651.4",
"gene_symbol": "PELI1",
"hgnc_id": 8827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}