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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: 1-114424633-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=114424633&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TRIM33",
"hgnc_id": 16290,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_015906.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 48,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16200000047683716,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8369,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3384,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_015906.4",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358465.7",
"protein_coding": true,
"protein_id": "NP_056990.3",
"strand": false,
"transcript": "NM_015906.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8369,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3384,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000358465.7",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015906.4",
"protein_coding": true,
"protein_id": "ENSP00000351250.2",
"strand": false,
"transcript": "ENST00000358465.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 3333,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000369543.6",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358556.2",
"strand": false,
"transcript": "ENST00000369543.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "S",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8376,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 3426,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000925754.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1911C>T",
"hgvs_p": "p.Ser637Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595813.1",
"strand": false,
"transcript": "ENST00000925754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "S",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 2035,
"cds_end": null,
"cds_length": 3423,
"cds_start": 1908,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000925758.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1908C>T",
"hgvs_p": "p.Ser636Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595817.1",
"strand": false,
"transcript": "ENST00000925758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 3405,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925756.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595815.1",
"strand": false,
"transcript": "ENST00000925756.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925757.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595816.1",
"strand": false,
"transcript": "ENST00000925757.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8318,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3333,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_033020.3",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_148980.2",
"strand": false,
"transcript": "NM_033020.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 3183,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925753.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595812.1",
"strand": false,
"transcript": "ENST00000925753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964324.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634383.1",
"strand": false,
"transcript": "ENST00000964324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "S",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 3126,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964325.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Ser518Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634384.1",
"strand": false,
"transcript": "ENST00000964325.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "S",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8155,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 3120,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925752.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Ser518Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595811.1",
"strand": false,
"transcript": "ENST00000925752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "S",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7958,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925755.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Ser518Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595814.1",
"strand": false,
"transcript": "ENST00000925755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 887,
"aa_ref": "S",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000448034.5",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Ser342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402333.1",
"strand": false,
"transcript": "ENST00000448034.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8441,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3456,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005270936.5",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270993.1",
"strand": false,
"transcript": "XM_005270936.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8438,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3453,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011541568.4",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539870.1",
"strand": false,
"transcript": "XM_011541568.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8390,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3405,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005270937.5",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270994.1",
"strand": false,
"transcript": "XM_005270937.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8387,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047422512.1",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278468.1",
"strand": false,
"transcript": "XM_047422512.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 638,
"aa_ref": "S",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017001454.3",
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ser606Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856943.1",
"strand": false,
"transcript": "XM_017001454.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs533295381",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00002984863,
"gene_hgnc_id": 16290,
"gene_symbol": "TRIM33",
"gnomad_exomes_ac": 45,
"gnomad_exomes_af": 0.0000309087,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197094,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.922,
"pos": 114424633,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.162,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_015906.4"
}
]
}