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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: 14-44962504-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=44962504&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 44962504,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001308120.2",
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "NM_001308120.2",
"protein_id": "NP_001295049.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1773,
"cds_start": 83,
"cds_end": null,
"cds_length": 5322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361462.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308120.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "ENST00000361462.7",
"protein_id": "ENSP00000354917.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1773,
"cds_start": 83,
"cds_end": null,
"cds_length": 5322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308120.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361462.7"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "ENST00000361577.7",
"protein_id": "ENSP00000355045.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 1720,
"cds_start": 83,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361577.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "n.291C>G",
"hgvs_p": null,
"transcript": "ENST00000555607.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000555607.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "n.286C>G",
"hgvs_p": null,
"transcript": "ENST00000555945.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000555945.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"transcript": "ENST00000557423.5",
"protein_id": "ENSP00000451829.1",
"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": "ENST00000557423.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "ENST00000876559.1",
"protein_id": "ENSP00000546618.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1743,
"cds_start": 83,
"cds_end": null,
"cds_length": 5232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876559.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "NM_015091.4",
"protein_id": "NP_055906.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1720,
"cds_start": 83,
"cds_end": null,
"cds_length": 5163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015091.4"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "XM_017021098.2",
"protein_id": "XP_016876587.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1743,
"cds_start": 83,
"cds_end": null,
"cds_length": 5232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021098.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "XM_017021099.2",
"protein_id": "XP_016876588.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1671,
"cds_start": 83,
"cds_end": null,
"cds_length": 5016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021099.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "XM_011536571.2",
"protein_id": "XP_011534873.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1670,
"cds_start": 83,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536571.2"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "XM_047431147.1",
"protein_id": "XP_047287103.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1438,
"cds_start": 83,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431147.1"
},
{
"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": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg",
"transcript": "XM_017021100.2",
"protein_id": "XP_016876589.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 995,
"cds_start": 83,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021100.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLHL28",
"gene_hgnc_id": 19741,
"hgvs_c": "c.-1+15694G>C",
"hgvs_p": null,
"transcript": "ENST00000556239.5",
"protein_id": "ENSP00000452591.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556239.5"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "n.315C>G",
"hgvs_p": null,
"transcript": "NR_131765.2",
"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": "NR_131765.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"hgvs_c": "n.315C>G",
"hgvs_p": null,
"transcript": "XR_943403.3",
"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_943403.3"
}
],
"gene_symbol": "TOGARAM1",
"gene_hgnc_id": 19959,
"dbsnp": "rs544996265",
"frequency_reference_population": 0.000019840752,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.000012324,
"gnomad_genomes_af": 0.0000919395,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09014084935188293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.938,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001308120.2",
"gene_symbol": "TOGARAM1",
"hgnc_id": 19959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Pro28Arg"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000556239.5",
"gene_symbol": "KLHL28",
"hgnc_id": 19741,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-1+15694G>C",
"hgvs_p": null
}
],
"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
}