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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: 12-118411153-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=118411153&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUDS3",
"hgnc_id": 29545,
"hgvs_c": "c.884A>T",
"hgvs_p": "p.Asn295Ile",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_022491.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8303,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.770863950252533,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 328,
"aa_ref": "N",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4724,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 987,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022491.3",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.884A>T",
"hgvs_p": "p.Asn295Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000543473.2",
"protein_coding": true,
"protein_id": "NP_071936.2",
"strand": true,
"transcript": "NM_022491.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 328,
"aa_ref": "N",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4724,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 987,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000543473.2",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.884A>T",
"hgvs_p": "p.Asn295Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022491.3",
"protein_coding": true,
"protein_id": "ENSP00000443988.1",
"strand": true,
"transcript": "ENST00000543473.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 339,
"aa_ref": "N",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1020,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859517.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.Asn306Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529576.1",
"strand": true,
"transcript": "ENST00000859517.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 304,
"aa_ref": "N",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 972,
"cds_end": null,
"cds_length": 915,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859515.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529574.1",
"strand": true,
"transcript": "ENST00000859515.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "N",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4310,
"cdna_start": 918,
"cds_end": null,
"cds_length": 867,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859516.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Asn255Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529575.1",
"strand": true,
"transcript": "ENST00000859516.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 223,
"aa_ref": "N",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 730,
"cds_end": null,
"cds_length": 672,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913123.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Asn190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583182.1",
"strand": true,
"transcript": "ENST00000913123.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 131,
"aa_ref": "N",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 430,
"cds_end": null,
"cds_length": 396,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913124.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.293A>T",
"hgvs_p": "p.Asn98Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583183.1",
"strand": true,
"transcript": "ENST00000913124.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 306,
"aa_ref": "N",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 921,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017019817.2",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.818A>T",
"hgvs_p": "p.Asn273Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875306.1",
"strand": true,
"transcript": "XM_017019817.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 257,
"aa_ref": "N",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5900,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 774,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047429356.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.671A>T",
"hgvs_p": "p.Asn224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285312.1",
"strand": true,
"transcript": "XM_047429356.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 232,
"aa_ref": "N",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4940,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 699,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047429357.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asn199Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285313.1",
"strand": true,
"transcript": "XM_047429357.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 232,
"aa_ref": "N",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 846,
"cds_end": null,
"cds_length": 699,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047429358.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asn199Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285314.1",
"strand": true,
"transcript": "XM_047429358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000541280.1",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "n.603A>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": "ENST00000541280.1",
"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": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000541591.5",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "n.236A>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": "ENST00000541591.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360286.2",
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"hgvs_c": "n.*6A>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": "ENST00000360286.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs370752292",
"effect": "missense_variant",
"frequency_reference_population": 6.9548963e-7,
"gene_hgnc_id": 29545,
"gene_symbol": "SUDS3",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.9549e-7,
"gnomad_exomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 6.953,
"pos": 118411153,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.275,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022491.3"
}
]
}