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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: 2-64095268-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=64095268&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PELI1",
"hgnc_id": 8827,
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_020651.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5544,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7669720649719238,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020651.4",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358912.5",
"protein_coding": true,
"protein_id": "NP_065702.2",
"strand": false,
"transcript": "NM_020651.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358912.5",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020651.4",
"protein_coding": true,
"protein_id": "ENSP00000351789.4",
"strand": false,
"transcript": "ENST00000358912.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 441,
"aa_ref": "V",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1326,
"cds_start": 760,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903228.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Val254Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573287.1",
"strand": false,
"transcript": "ENST00000903228.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "V",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1278,
"cds_start": 712,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924986.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Val238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595045.1",
"strand": false,
"transcript": "ENST00000924986.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903230.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573289.1",
"strand": false,
"transcript": "ENST00000903230.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903231.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573290.1",
"strand": false,
"transcript": "ENST00000903231.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924988.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595047.1",
"strand": false,
"transcript": "ENST00000924988.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5000,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000924989.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595048.1",
"strand": false,
"transcript": "ENST00000924989.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942852.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612911.1",
"strand": false,
"transcript": "ENST00000942852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942853.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612912.1",
"strand": false,
"transcript": "ENST00000942853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1254,
"cds_start": 688,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903229.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Val230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573288.1",
"strand": false,
"transcript": "ENST00000903229.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1254,
"cds_start": 688,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942854.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Val230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612913.1",
"strand": false,
"transcript": "ENST00000942854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 384,
"aa_ref": "V",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1155,
"cds_start": 589,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000924987.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595046.1",
"strand": false,
"transcript": "ENST00000924987.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 285,
"aa_ref": "V",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 699,
"cds_end": null,
"cds_length": 858,
"cds_start": 292,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924985.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Val98Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595044.1",
"strand": false,
"transcript": "ENST00000924985.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 21763,
"cdna_start": 19147,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532994.4",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531296.1",
"strand": false,
"transcript": "XM_011532994.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017004520.2",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860009.1",
"strand": false,
"transcript": "XM_017004520.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047445137.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301093.1",
"strand": false,
"transcript": "XM_047445137.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1257,
"cds_start": 691,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047445139.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301095.1",
"strand": false,
"transcript": "XM_047445139.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 352,
"aa_ref": "V",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1059,
"cds_start": 493,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047445140.1",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.493G>C",
"hgvs_p": "p.Val165Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301096.1",
"strand": false,
"transcript": "XM_047445140.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 704,
"cds_end": null,
"cds_length": 720,
"cds_start": 154,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011532997.3",
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Val52Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531299.1",
"strand": false,
"transcript": "XM_011532997.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999052372142607,
"dbsnp": "rs1390487260",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.0000065733257,
"gene_hgnc_id": 8827,
"gene_symbol": "PELI1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657333,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 64095268,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.235,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.8460000157356262,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_020651.4"
}
]
}