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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: 4-4246312-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=4246312&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 4246312,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001297551.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "NM_001297551.2",
"protein_id": "NP_001284480.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382753.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297551.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000382753.5",
"protein_id": "ENSP00000372201.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001297551.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382753.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Lys19Lys",
"transcript": "ENST00000254742.6",
"protein_id": "ENSP00000254742.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 141,
"cds_start": 57,
"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": "ENST00000254742.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898375.1",
"protein_id": "ENSP00000568434.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 206,
"cds_start": 129,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898375.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898381.1",
"protein_id": "ENSP00000568440.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 206,
"cds_start": 129,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898381.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000961755.1",
"protein_id": "ENSP00000631814.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 206,
"cds_start": 129,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961755.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.156A>G",
"hgvs_p": "p.Lys52Lys",
"transcript": "ENST00000961756.1",
"protein_id": "ENSP00000631815.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 174,
"cds_start": 156,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961756.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "NM_001297552.2",
"protein_id": "NP_001284481.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297552.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898372.1",
"protein_id": "ENSP00000568431.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898372.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898373.1",
"protein_id": "ENSP00000568432.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898373.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898374.1",
"protein_id": "ENSP00000568433.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898374.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898376.1",
"protein_id": "ENSP00000568435.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898376.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898379.1",
"protein_id": "ENSP00000568438.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898379.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.117A>G",
"hgvs_p": "p.Lys39Lys",
"transcript": "ENST00000898377.1",
"protein_id": "ENSP00000568436.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 161,
"cds_start": 117,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898377.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898378.1",
"protein_id": "ENSP00000568437.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 159,
"cds_start": 129,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898378.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Lys19Lys",
"transcript": "NM_032927.4",
"protein_id": "NP_116316.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 141,
"cds_start": 57,
"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": "NM_032927.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "ENST00000898380.1",
"protein_id": "ENSP00000568439.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 112,
"cds_start": 129,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898380.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys",
"transcript": "XM_005248034.4",
"protein_id": "XP_005248091.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 165,
"cds_start": 129,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248034.4"
}
],
"gene_symbol": "TMEM128",
"gene_hgnc_id": 28201,
"dbsnp": "rs771177507",
"frequency_reference_population": 0.0000012421281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85841e-7,
"gnomad_genomes_af": 0.00000657566,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.016,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001297551.2",
"gene_symbol": "TMEM128",
"hgnc_id": 28201,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.129A>G",
"hgvs_p": "p.Lys43Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}