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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: 2-64095070-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=64095070&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 64095070,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020651.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "NM_020651.4",
"protein_id": "NP_065702.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": "ENST00000358912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020651.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000358912.5",
"protein_id": "ENSP00000351789.4",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": "NM_020651.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358912.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.958A>C",
"hgvs_p": "p.Lys320Gln",
"transcript": "ENST00000903228.1",
"protein_id": "ENSP00000573287.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 441,
"cds_start": 958,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903228.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.910A>C",
"hgvs_p": "p.Lys304Gln",
"transcript": "ENST00000924986.1",
"protein_id": "ENSP00000595045.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 425,
"cds_start": 910,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924986.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000903230.1",
"protein_id": "ENSP00000573289.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903230.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000903231.1",
"protein_id": "ENSP00000573290.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903231.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000924988.1",
"protein_id": "ENSP00000595047.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924988.1"
},
{
"aa_ref": "K",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000924989.1",
"protein_id": "ENSP00000595048.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2792,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924989.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000942852.1",
"protein_id": "ENSP00000612911.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942852.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "ENST00000942853.1",
"protein_id": "ENSP00000612912.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942853.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.886A>C",
"hgvs_p": "p.Lys296Gln",
"transcript": "ENST00000903229.1",
"protein_id": "ENSP00000573288.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 417,
"cds_start": 886,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903229.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.886A>C",
"hgvs_p": "p.Lys296Gln",
"transcript": "ENST00000942854.1",
"protein_id": "ENSP00000612913.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 417,
"cds_start": 886,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942854.1"
},
{
"aa_ref": "K",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.787A>C",
"hgvs_p": "p.Lys263Gln",
"transcript": "ENST00000924987.1",
"protein_id": "ENSP00000595046.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 384,
"cds_start": 787,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924987.1"
},
{
"aa_ref": "K",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000924985.1",
"protein_id": "ENSP00000595044.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 285,
"cds_start": 490,
"cds_end": null,
"cds_length": 858,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924985.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "XM_011532994.4",
"protein_id": "XP_011531296.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 19345,
"cdna_end": null,
"cdna_length": 21763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532994.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "XM_017004520.2",
"protein_id": "XP_016860009.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004520.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "XM_047445137.1",
"protein_id": "XP_047301093.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445137.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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.889A>C",
"hgvs_p": "p.Lys297Gln",
"transcript": "XM_047445139.1",
"protein_id": "XP_047301095.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 418,
"cds_start": 889,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445139.1"
},
{
"aa_ref": "K",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Lys231Gln",
"transcript": "XM_047445140.1",
"protein_id": "XP_047301096.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 352,
"cds_start": 691,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445140.1"
},
{
"aa_ref": "K",
"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": "PELI1",
"gene_hgnc_id": 8827,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Lys118Gln",
"transcript": "XM_011532997.3",
"protein_id": "XP_011531299.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 239,
"cds_start": 352,
"cds_end": null,
"cds_length": 720,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532997.3"
}
],
"gene_symbol": "PELI1",
"gene_hgnc_id": 8827,
"dbsnp": "rs771155544",
"frequency_reference_population": 0.0000037172372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342027,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3676452040672302,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.2596,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.674,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020651.4",
"gene_symbol": "PELI1",
"hgnc_id": 8827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.889A>C",
"hgvs_p": "p.Lys297Gln"
}
],
"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
}