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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: 3-48467047-T-TCCCCCTGCTCCAAGCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48467047&ref=T&alt=TCCCCCTGCTCCAAGCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48467047,
"ref": "T",
"alt": "TCCCCCTGCTCCAAGCA",
"effect": "frameshift_variant",
"transcript": "ENST00000625293.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "PPAPSR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.393_408dupCCCCCTGCTCCAAGCA",
"hgvs_p": "p.Glu137fs",
"transcript": "NM_033629.6",
"protein_id": "NP_338599.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 314,
"cds_start": 409,
"cds_end": null,
"cds_length": 945,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": "ENST00000625293.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "PPAPSR?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.393_408dupCCCCCTGCTCCAAGCA",
"hgvs_p": "p.Glu137fs",
"transcript": "ENST00000625293.3",
"protein_id": "ENSP00000486676.2",
"transcript_support_level": 6,
"aa_start": 137,
"aa_end": null,
"aa_length": 314,
"cds_start": 409,
"cds_end": null,
"cds_length": 945,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": "NM_033629.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "PPAPSR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.363_378dupCCCCCTGCTCCAAGCA",
"hgvs_p": "p.Glu127fs",
"transcript": "ENST00000444177.1",
"protein_id": "ENSP00000415972.1",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 304,
"cds_start": 379,
"cds_end": null,
"cds_length": 915,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.-25_-10dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000433541.1",
"protein_id": "ENSP00000412404.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "NM_130384.3",
"protein_id": "NP_569055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": "ENST00000320211.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000320211.10",
"protein_id": "ENSP00000323099.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": "NM_130384.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "PPAPSR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.363_378dupCCCCCTGCTCCAAGCA",
"hgvs_p": "p.Glu127fs",
"transcript": "NM_007248.5",
"protein_id": "NP_009179.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 304,
"cds_start": 379,
"cds_end": null,
"cds_length": 915,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "n.*1174_*1189dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000634384.2",
"protein_id": "ENSP00000489041.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "n.*1951_*1966dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000635464.1",
"protein_id": "ENSP00000489199.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP-TREX1",
"gene_hgnc_id": null,
"hgvs_c": "n.3702_3717dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "NR_153405.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.-25_-10dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000492235.2",
"protein_id": "ENSP00000494511.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.-25_-10dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000635452.2",
"protein_id": "ENSP00000492023.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "NM_032166.4",
"protein_id": "NP_115542.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "NM_001271023.2",
"protein_id": "NP_001257952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": -4,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "NM_001271022.2",
"protein_id": "NP_001257951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "n.*1174_*1189dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000634384.2",
"protein_id": "ENSP00000489041.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATRIP",
"gene_hgnc_id": 33499,
"hgvs_c": "n.*1951_*1966dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000635464.1",
"protein_id": "ENSP00000489199.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"hgvs_c": "c.-8-17_-8-2dupCCCCCTGCTCCAAGCA",
"hgvs_p": null,
"transcript": "ENST00000456089.1",
"protein_id": "ENSP00000411331.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TREX1",
"gene_hgnc_id": 12269,
"dbsnp": "rs74876396",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.403,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000625293.3",
"gene_symbol": "TREX1",
"hgnc_id": 12269,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.393_408dupCCCCCTGCTCCAAGCA",
"hgvs_p": "p.Glu137fs"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000320211.10",
"gene_symbol": "ATRIP",
"hgnc_id": 33499,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*1494_*1509dupCCCCCTGCTCCAAGCA",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_153405.1",
"gene_symbol": "ATRIP-TREX1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3702_3717dupCCCCCTGCTCCAAGCA",
"hgvs_p": null
}
],
"clinvar_disease": "Aicardi-Goutieres syndrome 1,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Aicardi-Goutieres syndrome 1|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}