← Back to variant description
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: 12-101698118-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101698118&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101698118,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020244.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "NM_020244.3",
"protein_id": "NP_064629.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 406,
"cds_start": 257,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229266.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020244.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000229266.8",
"protein_id": "ENSP00000229266.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 406,
"cds_start": 257,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020244.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229266.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.152C>G",
"hgvs_p": null,
"transcript": "ENST00000552215.5",
"protein_id": "ENSP00000448831.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552215.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868508.1",
"protein_id": "ENSP00000538567.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 439,
"cds_start": 257,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868508.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000931424.1",
"protein_id": "ENSP00000601483.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 405,
"cds_start": 257,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931424.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000549872.5",
"protein_id": "ENSP00000448766.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 398,
"cds_start": 257,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549872.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868505.1",
"protein_id": "ENSP00000538564.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 386,
"cds_start": 257,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868505.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868504.1",
"protein_id": "ENSP00000538563.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 371,
"cds_start": 257,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868504.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868506.1",
"protein_id": "ENSP00000538565.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 369,
"cds_start": 257,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868506.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868507.1",
"protein_id": "ENSP00000538566.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 368,
"cds_start": 257,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868507.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868503.1",
"protein_id": "ENSP00000538562.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 362,
"cds_start": 257,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868503.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868510.1",
"protein_id": "ENSP00000538569.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 358,
"cds_start": 257,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868510.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868509.1",
"protein_id": "ENSP00000538568.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 311,
"cds_start": 257,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868509.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000868502.1",
"protein_id": "ENSP00000538561.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 237,
"cds_start": 257,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868502.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "XM_011538574.2",
"protein_id": "XP_011536876.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 362,
"cds_start": 257,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538574.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.265C>G",
"hgvs_p": null,
"transcript": "ENST00000546490.1",
"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": "retained_intron",
"feature": "ENST00000546490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.257C>G",
"hgvs_p": null,
"transcript": "ENST00000549128.5",
"protein_id": "ENSP00000446994.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000549128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.257C>G",
"hgvs_p": null,
"transcript": "ENST00000552351.5",
"protein_id": "ENSP00000447887.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552351.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.479C>G",
"hgvs_p": null,
"transcript": "XR_001748818.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001748818.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.479C>G",
"hgvs_p": null,
"transcript": "XR_245946.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_245946.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.82+1090C>G",
"hgvs_p": null,
"transcript": "ENST00000550385.1",
"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": "ENST00000550385.1"
}
],
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"dbsnp": "rs755098314",
"frequency_reference_population": 0.00007425801,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000773641,
"gnomad_genomes_af": 0.0000460169,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8081367611885071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.3472,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.995,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020244.3",
"gene_symbol": "CHPT1",
"hgnc_id": 17852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg"
}
],
"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
}