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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: 22-19456608-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19456608&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19456608,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_005659.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr",
"transcript": "NM_005659.7",
"protein_id": "NP_005650.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 307,
"cds_start": 657,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263202.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005659.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr",
"transcript": "ENST00000263202.15",
"protein_id": "ENSP00000263202.9",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 307,
"cds_start": 657,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005659.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263202.15"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr",
"transcript": "ENST00000399523.5",
"protein_id": "ENSP00000382439.1",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 266,
"cds_start": 657,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "n.718T>C",
"hgvs_p": null,
"transcript": "ENST00000459854.5",
"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": "ENST00000459854.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr",
"transcript": "ENST00000914082.1",
"protein_id": "ENSP00000584141.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 307,
"cds_start": 657,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914082.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.642T>C",
"hgvs_p": "p.Tyr214Tyr",
"transcript": "NM_001362910.2",
"protein_id": "NP_001349839.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 302,
"cds_start": 642,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362910.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.591T>C",
"hgvs_p": "p.Tyr197Tyr",
"transcript": "ENST00000914086.1",
"protein_id": "ENSP00000584145.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 285,
"cds_start": 591,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914086.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.588T>C",
"hgvs_p": "p.Tyr196Tyr",
"transcript": "ENST00000895843.1",
"protein_id": "ENSP00000565902.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 284,
"cds_start": 588,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895843.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr",
"transcript": "NM_001035247.3",
"protein_id": "NP_001030324.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 266,
"cds_start": 657,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035247.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.426T>C",
"hgvs_p": "p.Tyr142Tyr",
"transcript": "ENST00000914085.1",
"protein_id": "ENSP00000584144.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 230,
"cds_start": 426,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914085.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.300T>C",
"hgvs_p": "p.Tyr100Tyr",
"transcript": "ENST00000914083.1",
"protein_id": "ENSP00000584142.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 188,
"cds_start": 300,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914083.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.369T>C",
"hgvs_p": "p.Tyr123Tyr",
"transcript": "ENST00000447868.5",
"protein_id": "ENSP00000402136.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 158,
"cds_start": 369,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447868.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.165T>C",
"hgvs_p": "p.Tyr55Tyr",
"transcript": "ENST00000914081.1",
"protein_id": "ENSP00000584140.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 143,
"cds_start": 165,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914081.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Tyr176Tyr",
"transcript": "XM_047441486.1",
"protein_id": "XP_047297442.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 264,
"cds_start": 528,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441486.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.Tyr172Tyr",
"transcript": "XM_047441487.1",
"protein_id": "XP_047297443.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 260,
"cds_start": 516,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441487.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.369T>C",
"hgvs_p": "p.Tyr123Tyr",
"transcript": "XM_047441488.1",
"protein_id": "XP_047297444.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 211,
"cds_start": 369,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441488.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "c.496-5864T>C",
"hgvs_p": null,
"transcript": "ENST00000914084.1",
"protein_id": "ENSP00000584143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914084.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"hgvs_c": "n.2677T>C",
"hgvs_p": null,
"transcript": "ENST00000466373.1",
"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": "ENST00000466373.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273212",
"gene_hgnc_id": null,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000608816.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000608816.1"
}
],
"gene_symbol": "UFD1",
"gene_hgnc_id": 12520,
"dbsnp": "rs374027174",
"frequency_reference_population": 0.000009293277,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957677,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.556,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005659.7",
"gene_symbol": "UFD1",
"hgnc_id": 12520,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.657T>C",
"hgvs_p": "p.Tyr219Tyr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608816.1",
"gene_symbol": "ENSG00000273212",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.106A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}