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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: 16-4874766-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4874766&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4874766,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001079514.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "NM_001079514.3",
"protein_id": "NP_001072982.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262376.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079514.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "ENST00000262376.11",
"protein_id": "ENSP00000262376.5",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079514.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262376.11"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "ENST00000396658.8",
"protein_id": "ENSP00000379894.3",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396658.8"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2329T>A",
"hgvs_p": "p.Leu777Met",
"transcript": "ENST00000931634.1",
"protein_id": "ENSP00000601693.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931634.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "NM_001288656.1",
"protein_id": "NP_001275585.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288656.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "ENST00000590769.5",
"protein_id": "ENSP00000468740.1",
"transcript_support_level": 2,
"aa_start": 786,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590769.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "ENST00000879302.1",
"protein_id": "ENSP00000549361.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879302.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.733T>A",
"hgvs_p": "p.Leu245Met",
"transcript": "ENST00000586716.1",
"protein_id": "ENSP00000465309.1",
"transcript_support_level": 3,
"aa_start": 245,
"aa_end": null,
"aa_length": 310,
"cds_start": 733,
"cds_end": null,
"cds_length": 935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586716.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "XM_005255277.5",
"protein_id": "XP_005255334.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255277.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "XM_005255278.4",
"protein_id": "XP_005255335.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255278.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "XM_047434037.1",
"protein_id": "XP_047289993.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434037.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2209T>A",
"hgvs_p": "p.Leu737Met",
"transcript": "XM_005255279.5",
"protein_id": "XP_005255336.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255279.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2209T>A",
"hgvs_p": "p.Leu737Met",
"transcript": "XM_047434038.1",
"protein_id": "XP_047289994.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434038.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2209T>A",
"hgvs_p": "p.Leu737Met",
"transcript": "XM_017023190.3",
"protein_id": "XP_016878679.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023190.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2209T>A",
"hgvs_p": "p.Leu737Met",
"transcript": "XM_047434039.1",
"protein_id": "XP_047289995.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434039.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met",
"transcript": "XM_011522465.3",
"protein_id": "XP_011520767.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522465.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.2209T>A",
"hgvs_p": "p.Leu737Met",
"transcript": "XM_047434040.1",
"protein_id": "XP_047289996.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434040.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.1288T>A",
"hgvs_p": "p.Leu430Met",
"transcript": "XM_047434041.1",
"protein_id": "XP_047289997.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 805,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434041.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.1288T>A",
"hgvs_p": "p.Leu430Met",
"transcript": "XM_047434042.1",
"protein_id": "XP_047289998.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 778,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.3125T>A",
"hgvs_p": null,
"transcript": "XR_007064874.1",
"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_007064874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.2978T>A",
"hgvs_p": null,
"transcript": "XR_007064875.1",
"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_007064875.1"
}
],
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"dbsnp": "rs765004815",
"frequency_reference_population": 0.00004708909,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000506225,
"gnomad_genomes_af": 0.0000131441,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13055968284606934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.295,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5_Moderate,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001079514.3",
"gene_symbol": "UBN1",
"hgnc_id": 12506,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2356T>A",
"hgvs_p": "p.Leu786Met"
}
],
"clinvar_disease": "Non-immune hydrops fetalis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Non-immune hydrops fetalis",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}