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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: 1-153642397-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153642397&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153642397,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001206612.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Thr",
"transcript": "NM_015607.4",
"protein_id": "NP_056422.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 248,
"cds_start": 371,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368694.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015607.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Thr",
"transcript": "ENST00000368694.8",
"protein_id": "ENSP00000357683.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 248,
"cds_start": 371,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015607.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368694.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr",
"transcript": "ENST00000368690.7",
"protein_id": "ENSP00000357679.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 249,
"cds_start": 374,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368690.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.296G>C",
"hgvs_p": "p.Arg99Thr",
"transcript": "ENST00000368687.1",
"protein_id": "ENSP00000357676.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 223,
"cds_start": 296,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368687.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Thr",
"transcript": "ENST00000710369.1",
"protein_id": "ENSP00000518236.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 268,
"cds_start": 431,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710369.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr",
"transcript": "NM_001206612.2",
"protein_id": "NP_001193541.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 249,
"cds_start": 374,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206612.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Thr",
"transcript": "NM_001317077.2",
"protein_id": "NP_001304006.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 202,
"cds_start": 371,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317077.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Arg124Thr",
"transcript": "ENST00000403433.5",
"protein_id": "ENSP00000385228.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 202,
"cds_start": 371,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403433.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr",
"transcript": "ENST00000368686.2",
"protein_id": "ENSP00000357675.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 141,
"cds_start": 374,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368686.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr",
"transcript": "XM_017000993.2",
"protein_id": "XP_016856482.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 203,
"cds_start": 374,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000993.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.220-2667G>C",
"hgvs_p": null,
"transcript": "NM_001244664.2",
"protein_id": "NP_001231593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244664.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "c.220-2667G>C",
"hgvs_p": null,
"transcript": "ENST00000614256.4",
"protein_id": "ENSP00000484038.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614256.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"hgvs_c": "n.2147-2667G>C",
"hgvs_p": null,
"transcript": "ENST00000495554.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000495554.1"
}
],
"gene_symbol": "CHTOP",
"gene_hgnc_id": 24511,
"dbsnp": "rs942120799",
"frequency_reference_population": 0.000008055062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000547314,
"gnomad_genomes_af": 0.0000328498,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5021929740905762,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.553,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.701,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001206612.2",
"gene_symbol": "CHTOP",
"hgnc_id": 24511,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Arg125Thr"
}
],
"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
}