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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: 3-121993458-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121993458&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ILDR1",
"hgnc_id": 28741,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001199799.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 76,
"alphamissense_prediction": null,
"alphamissense_score": 0.0932,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 42,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0998692512512207,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001199799.2",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344209.10",
"protein_coding": true,
"protein_id": "NP_001186728.1",
"strand": false,
"transcript": "NM_001199799.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000344209.10",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001199799.2",
"protein_coding": true,
"protein_id": "ENSP00000345667.5",
"strand": false,
"transcript": "ENST00000344209.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000273691.7",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273691.3",
"strand": false,
"transcript": "ENST00000273691.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393631.5",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377251.1",
"strand": false,
"transcript": "ENST00000393631.5",
"transcript_support_level": 1
},
{
"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": 1612,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000460554.2",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "n.1241C>T",
"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": "ENST00000460554.2",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891214.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561273.1",
"strand": false,
"transcript": "ENST00000891214.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_175924.4",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_787120.1",
"strand": false,
"transcript": "NM_175924.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914512.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584571.1",
"strand": false,
"transcript": "ENST00000914512.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1144,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891215.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561274.1",
"strand": false,
"transcript": "ENST00000891215.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000969537.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639596.1",
"strand": false,
"transcript": "ENST00000969537.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001199800.2",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Arg342Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186729.1",
"strand": false,
"transcript": "NM_001199800.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891216.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561275.1",
"strand": false,
"transcript": "ENST00000891216.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1242,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891213.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561272.1",
"strand": false,
"transcript": "ENST00000891213.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011512738.3",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511040.1",
"strand": false,
"transcript": "XM_011512738.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005247389.5",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247446.1",
"strand": false,
"transcript": "XM_005247389.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047448043.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303999.1",
"strand": false,
"transcript": "XM_047448043.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 1236,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047448044.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304000.1",
"strand": false,
"transcript": "XM_047448044.1",
"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": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642615.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "n.*474C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495499.1",
"strand": false,
"transcript": "ENST00000642615.1",
"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": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000642615.1",
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"hgvs_c": "n.*474C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495499.1",
"strand": false,
"transcript": "ENST00000642615.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376510686",
"effect": "missense_variant",
"frequency_reference_population": 0.000047087804,
"gene_hgnc_id": 28741,
"gene_symbol": "ILDR1",
"gnomad_exomes_ac": 73,
"gnomad_exomes_af": 0.0000499436,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000196907,
"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 specified|Autosomal recessive nonsyndromic hearing loss 42",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.371,
"pos": 121993458,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.069,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001199799.2"
}
]
}