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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: 3-121993587-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121993587&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121993587,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199799.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Trp388Arg",
"transcript": "NM_001199799.2",
"protein_id": "NP_001186728.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 546,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344209.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199799.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Trp388Arg",
"transcript": "ENST00000344209.10",
"protein_id": "ENSP00000345667.5",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 546,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199799.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344209.10"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1030T>C",
"hgvs_p": "p.Trp344Arg",
"transcript": "ENST00000273691.7",
"protein_id": "ENSP00000273691.3",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 502,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273691.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.895T>C",
"hgvs_p": "p.Trp299Arg",
"transcript": "ENST00000393631.5",
"protein_id": "ENSP00000377251.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 457,
"cds_start": 895,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393631.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.1112T>C",
"hgvs_p": null,
"transcript": "ENST00000460554.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460554.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1156T>C",
"hgvs_p": "p.Trp386Arg",
"transcript": "ENST00000891214.1",
"protein_id": "ENSP00000561273.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 544,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891214.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1030T>C",
"hgvs_p": "p.Trp344Arg",
"transcript": "NM_175924.4",
"protein_id": "NP_787120.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 502,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175924.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Trp342Arg",
"transcript": "ENST00000914512.1",
"protein_id": "ENSP00000584571.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 500,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914512.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1015T>C",
"hgvs_p": "p.Trp339Arg",
"transcript": "ENST00000891215.1",
"protein_id": "ENSP00000561274.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 497,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891215.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.991T>C",
"hgvs_p": "p.Trp331Arg",
"transcript": "ENST00000969537.1",
"protein_id": "ENSP00000639596.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 489,
"cds_start": 991,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969537.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.895T>C",
"hgvs_p": "p.Trp299Arg",
"transcript": "NM_001199800.2",
"protein_id": "NP_001186729.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 457,
"cds_start": 895,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199800.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.883T>C",
"hgvs_p": "p.Trp295Arg",
"transcript": "ENST00000891216.1",
"protein_id": "ENSP00000561275.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 453,
"cds_start": 883,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891216.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.763T>C",
"hgvs_p": "p.Trp255Arg",
"transcript": "ENST00000891213.1",
"protein_id": "ENSP00000561272.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 413,
"cds_start": 763,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891213.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Trp388Arg",
"transcript": "XM_011512738.3",
"protein_id": "XP_011511040.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 525,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512738.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1066T>C",
"hgvs_p": "p.Trp356Arg",
"transcript": "XM_005247389.5",
"protein_id": "XP_005247446.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 514,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247389.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.1030T>C",
"hgvs_p": "p.Trp344Arg",
"transcript": "XM_047448043.1",
"protein_id": "XP_047303999.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 481,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448043.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.757T>C",
"hgvs_p": "p.Trp253Arg",
"transcript": "XM_047448044.1",
"protein_id": "XP_047304000.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 411,
"cds_start": 757,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.*345T>C",
"hgvs_p": null,
"transcript": "ENST00000642615.1",
"protein_id": "ENSP00000495499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.*345T>C",
"hgvs_p": null,
"transcript": "ENST00000642615.1",
"protein_id": "ENSP00000495499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642615.1"
}
],
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"dbsnp": "rs35661993",
"frequency_reference_population": 0.0031155602,
"hom_count_reference_population": 117,
"allele_count_reference_population": 5029,
"gnomad_exomes_af": 0.00186402,
"gnomad_genomes_af": 0.0151318,
"gnomad_exomes_ac": 2725,
"gnomad_genomes_ac": 2304,
"gnomad_exomes_homalt": 51,
"gnomad_genomes_homalt": 66,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0029866695404052734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.1012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.273,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001199799.2",
"gene_symbol": "ILDR1",
"hgnc_id": 28741,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Trp388Arg"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 42,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 42",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}