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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: 4-67619113-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=67619113&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 67619113,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018227.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Pro1015Ser",
"transcript": "NM_018227.6",
"protein_id": "NP_060697.4",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322244.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018227.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Pro1015Ser",
"transcript": "ENST00000322244.10",
"protein_id": "ENSP00000313454.4",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1052,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018227.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322244.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Pro1021Ser",
"transcript": "ENST00000907530.1",
"protein_id": "ENSP00000577589.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907530.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3049C>T",
"hgvs_p": "p.Pro1017Ser",
"transcript": "ENST00000907528.1",
"protein_id": "ENSP00000577587.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1054,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907528.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Pro1012Ser",
"transcript": "ENST00000928865.1",
"protein_id": "ENSP00000598924.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928865.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3007C>T",
"hgvs_p": "p.Pro1003Ser",
"transcript": "ENST00000928867.1",
"protein_id": "ENSP00000598926.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928867.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2980C>T",
"hgvs_p": "p.Pro994Ser",
"transcript": "ENST00000928866.1",
"protein_id": "ENSP00000598925.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928866.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2971C>T",
"hgvs_p": "p.Pro991Ser",
"transcript": "ENST00000907529.1",
"protein_id": "ENSP00000577588.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907529.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2971C>T",
"hgvs_p": "p.Pro991Ser",
"transcript": "ENST00000968080.1",
"protein_id": "ENSP00000638139.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968080.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Pro989Ser",
"transcript": "ENST00000907531.1",
"protein_id": "ENSP00000577590.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907531.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.2899C>T",
"hgvs_p": "p.Pro967Ser",
"transcript": "ENST00000928864.1",
"protein_id": "ENSP00000598923.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928864.1"
},
{
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "c.3024-49C>T",
"hgvs_p": null,
"transcript": "XM_017008359.3",
"protein_id": "XP_016863848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": null,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008359.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "n.*98C>T",
"hgvs_p": null,
"transcript": "ENST00000514261.1",
"protein_id": "ENSP00000425091.1",
"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": "ENST00000514261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"hgvs_c": "n.*98C>T",
"hgvs_p": null,
"transcript": "ENST00000514261.1",
"protein_id": "ENSP00000425091.1",
"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": "ENST00000514261.1"
}
],
"gene_symbol": "UBA6",
"gene_hgnc_id": 25581,
"dbsnp": "rs377289306",
"frequency_reference_population": 0.000004361387,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 6.88282e-7,
"gnomad_genomes_af": 0.0000394472,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43616783618927,
"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": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.5989,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.749,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_018227.6",
"gene_symbol": "UBA6",
"hgnc_id": 25581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Pro1015Ser"
}
],
"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
}