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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: 17-2324337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2324337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TSR1",
"hgnc_id": 25542,
"hgvs_c": "c.2274G>A",
"hgvs_p": "p.Lys758Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018128.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "SRR",
"hgnc_id": 14398,
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_021947.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "K",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2274,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_018128.5",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2274G>A",
"hgvs_p": "p.Lys758Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301364.10",
"protein_coding": true,
"protein_id": "NP_060598.3",
"strand": false,
"transcript": "NM_018128.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 804,
"aa_ref": "K",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2274,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000301364.10",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2274G>A",
"hgvs_p": "p.Lys758Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018128.5",
"protein_coding": true,
"protein_id": "ENSP00000301364.4",
"strand": false,
"transcript": "ENST00000301364.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_021947.3",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344595.10",
"protein_coding": true,
"protein_id": "NP_068766.1",
"strand": true,
"transcript": "NM_021947.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000344595.10",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021947.3",
"protein_coding": true,
"protein_id": "ENSP00000339435.5",
"strand": true,
"transcript": "ENST00000344595.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 797,
"aa_ref": "K",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2394,
"cds_start": 2253,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000915544.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Lys751Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585603.1",
"strand": false,
"transcript": "ENST00000915544.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 796,
"aa_ref": "K",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2250,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947905.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2250G>A",
"hgvs_p": "p.Lys750Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617964.1",
"strand": false,
"transcript": "ENST00000947905.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2247,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000915545.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Lys749Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585604.1",
"strand": false,
"transcript": "ENST00000915545.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 788,
"aa_ref": "K",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2226,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000909712.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2226G>A",
"hgvs_p": "p.Lys742Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579771.1",
"strand": false,
"transcript": "ENST00000909712.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 759,
"aa_ref": "K",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2139,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000915542.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Lys713Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585601.1",
"strand": false,
"transcript": "ENST00000915542.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 714,
"aa_ref": "K",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2145,
"cds_start": 2004,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000915543.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.2004G>A",
"hgvs_p": "p.Lys668Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585602.1",
"strand": false,
"transcript": "ENST00000915543.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 649,
"aa_ref": "K",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1809,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947906.1",
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Lys603Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617965.1",
"strand": false,
"transcript": "ENST00000947906.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909632.1",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579691.1",
"strand": true,
"transcript": "ENST00000909632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909634.1",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579693.1",
"strand": true,
"transcript": "ENST00000909634.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304803.1",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291732.1",
"strand": true,
"transcript": "NM_001304803.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006721565.4",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721628.1",
"strand": true,
"transcript": "XM_006721565.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006721566.4",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721629.1",
"strand": true,
"transcript": "XM_006721566.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011523974.4",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522276.1",
"strand": true,
"transcript": "XM_011523974.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909633.1",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579692.1",
"strand": true,
"transcript": "ENST00000909633.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947746.1",
"gene_hgnc_id": 14398,
"gene_symbol": "SRR",
"hgvs_c": "c.*464C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617805.1",
"strand": true,
"transcript": "ENST00000947746.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs150688044",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000006569698,
"gene_hgnc_id": 25542,
"gene_symbol": "TSR1",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.0000065697,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.038,
"pos": 2324337,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018128.5"
}
]
}