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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: 2-3189481-CAC-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3189481&ref=CAC&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIPR1",
"hgnc_id": 12383,
"hgvs_c": "c.1096_1098delGTGinsCTA",
"hgvs_p": "p.Val366Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001330530.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 387,
"aa_ref": "V",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003310.5",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1015_1017delGTGinsCTA",
"hgvs_p": "p.Val339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382125.9",
"protein_coding": true,
"protein_id": "NP_003301.1",
"strand": false,
"transcript": "NM_003310.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 387,
"aa_ref": "V",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382125.9",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1015_1017delGTGinsCTA",
"hgvs_p": "p.Val339Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003310.5",
"protein_coding": true,
"protein_id": "ENSP00000371559.4",
"strand": false,
"transcript": "ENST00000382125.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864323.1",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1105_1107delGTGinsCTA",
"hgvs_p": "p.Val369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534382.1",
"strand": false,
"transcript": "ENST00000864323.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "V",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330530.3",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1096_1098delGTGinsCTA",
"hgvs_p": "p.Val366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317459.1",
"strand": false,
"transcript": "NM_001330530.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "V",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398659.8",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1096_1098delGTGinsCTA",
"hgvs_p": "p.Val366Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381652.4",
"strand": false,
"transcript": "ENST00000398659.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 405,
"aa_ref": "V",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864324.1",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1069_1071delGTGinsCTA",
"hgvs_p": "p.Val357Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534383.1",
"strand": false,
"transcript": "ENST00000864324.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "V",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1080,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955638.1",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.931_933delGTGinsCTA",
"hgvs_p": "p.Val311Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625697.1",
"strand": false,
"transcript": "ENST00000955638.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 243,
"aa_ref": "V",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 989,
"cds_end": null,
"cds_length": 732,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330531.3",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.583_585delGTGinsCTA",
"hgvs_p": "p.Val195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317460.1",
"strand": false,
"transcript": "NM_001330531.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1281,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510383.4",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1132_1134delGTGinsCTA",
"hgvs_p": "p.Val378Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508685.1",
"strand": false,
"transcript": "XM_011510383.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 399,
"aa_ref": "V",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510385.3",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.1051_1053delGTGinsCTA",
"hgvs_p": "p.Val351Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508687.1",
"strand": false,
"transcript": "XM_011510385.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "V",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 855,
"cds_end": null,
"cds_length": 864,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006711893.3",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "c.715_717delGTGinsCTA",
"hgvs_p": "p.Val239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711956.1",
"strand": false,
"transcript": "XM_006711893.3",
"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": 847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000455162.5",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "n.*548_*550delGTGinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389228.1",
"strand": false,
"transcript": "ENST00000455162.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000478754.5",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "n.2374_2376delGTGinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478754.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000496433.5",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "n.587_589delGTGinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496433.5",
"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": 847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000455162.5",
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"hgvs_c": "n.*548_*550delGTGinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389228.1",
"strand": false,
"transcript": "ENST00000455162.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12383,
"gene_symbol": "EIPR1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Pathogenic",
"phylop100way_score": 9.137,
"pos": 3189481,
"ref": "CAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001330530.3"
}
]
}