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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: 3-48465053-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48465053&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"stop_gained"
],
"gene_symbol": "ATRIP",
"hgnc_id": 33499,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_130384.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ATRIP-TREX1",
"hgnc_id": null,
"hgvs_c": "n.2430C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NR_153405.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.38999998569488525,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4576,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2278,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_130384.3",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320211.10",
"protein_coding": true,
"protein_id": "NP_569055.1",
"strand": true,
"transcript": "NM_130384.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4576,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2278,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000320211.10",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130384.3",
"protein_coding": true,
"protein_id": "ENSP00000323099.3",
"strand": true,
"transcript": "ENST00000320211.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2197,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000346691.9",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2197C>T",
"hgvs_p": "p.Arg733*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302338.5",
"strand": true,
"transcript": "ENST00000346691.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1999,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000412052.4",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400930.1",
"strand": true,
"transcript": "ENST00000412052.4",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 808,
"aa_ref": "R",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000949799.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Arg777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619858.1",
"strand": true,
"transcript": "ENST00000949799.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2275,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000885532.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555591.1",
"strand": true,
"transcript": "ENST00000885532.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 789,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2370,
"cds_start": 2278,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949798.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619857.1",
"strand": true,
"transcript": "ENST00000949798.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 776,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2233,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949797.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619856.1",
"strand": true,
"transcript": "ENST00000949797.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2197,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_032166.4",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2197C>T",
"hgvs_p": "p.Arg733*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115542.2",
"strand": true,
"transcript": "NM_032166.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 737,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2116,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949796.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Arg706*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619855.1",
"strand": true,
"transcript": "ENST00000949796.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1999,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001271023.2",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257952.1",
"strand": true,
"transcript": "NM_001271023.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1897,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001271022.2",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "c.1897C>T",
"hgvs_p": "p.Arg633*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257951.1",
"strand": true,
"transcript": "NM_001271022.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000634384.2",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "n.1714C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489041.2",
"strand": true,
"transcript": "ENST00000634384.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000635464.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "n.*679C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489199.1",
"strand": true,
"transcript": "ENST00000635464.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000639561.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "n.*1941C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491983.1",
"strand": true,
"transcript": "ENST00000639561.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_153405.1",
"gene_hgnc_id": null,
"gene_symbol": "ATRIP-TREX1",
"hgvs_c": "n.2430C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_153405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000635464.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "n.*679C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489199.1",
"strand": true,
"transcript": "ENST00000635464.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000639561.1",
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"hgvs_c": "n.*1941C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491983.1",
"strand": true,
"transcript": "ENST00000639561.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587777856",
"effect": "stop_gained",
"frequency_reference_population": 0.0000043404125,
"gene_hgnc_id": 33499,
"gene_symbol": "ATRIP",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410791,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657229,
"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": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.278,
"pos": 48465053,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.25,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"transcript": "NM_130384.3"
}
]
}