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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: 12-108788382-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108788382&ref=A&alt=G&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": "SSH1",
"hgnc_id": 30579,
"hgvs_c": "c.2756T>C",
"hgvs_p": "p.Ile919Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018984.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 8,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.5715,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18920016288757324,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "I",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13034,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2756,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_018984.4",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2756T>C",
"hgvs_p": "p.Ile919Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326495.10",
"protein_coding": true,
"protein_id": "NP_061857.3",
"strand": false,
"transcript": "NM_018984.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "I",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13034,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2756,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000326495.10",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2756T>C",
"hgvs_p": "p.Ile919Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018984.4",
"protein_coding": true,
"protein_id": "ENSP00000315713.5",
"strand": false,
"transcript": "ENST00000326495.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "I",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2687,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000877978.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2687T>C",
"hgvs_p": "p.Ile896Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548037.1",
"strand": false,
"transcript": "ENST00000877978.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "I",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13126,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2789,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538497.2",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2789T>C",
"hgvs_p": "p.Ile930Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536799.1",
"strand": false,
"transcript": "XM_011538497.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "I",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17345,
"cdna_start": 7154,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2756,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005268984.5",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2756T>C",
"hgvs_p": "p.Ile919Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269041.1",
"strand": false,
"transcript": "XM_005268984.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "I",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13981,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017019491.3",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2708T>C",
"hgvs_p": "p.Ile903Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874980.1",
"strand": false,
"transcript": "XM_017019491.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "I",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13375,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047429021.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2627T>C",
"hgvs_p": "p.Ile876Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284977.1",
"strand": false,
"transcript": "XM_047429021.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "I",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12993,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047429022.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2627T>C",
"hgvs_p": "p.Ile876Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284978.1",
"strand": false,
"transcript": "XM_047429022.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 993,
"aa_ref": "I",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12925,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2588,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011538499.2",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2588T>C",
"hgvs_p": "p.Ile863Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536801.1",
"strand": false,
"transcript": "XM_011538499.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 982,
"aa_ref": "I",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12833,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2949,
"cds_start": 2555,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047429023.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2555T>C",
"hgvs_p": "p.Ile852Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284979.1",
"strand": false,
"transcript": "XM_047429023.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 969,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12930,
"cdna_start": 2739,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005268985.3",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269042.1",
"strand": false,
"transcript": "XM_005268985.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 969,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12948,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538500.4",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536802.1",
"strand": false,
"transcript": "XM_011538500.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 969,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12944,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538501.4",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2516T>C",
"hgvs_p": "p.Ile839Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536803.1",
"strand": false,
"transcript": "XM_011538501.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 966,
"aa_ref": "I",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13781,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047429024.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2507T>C",
"hgvs_p": "p.Ile836Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284980.1",
"strand": false,
"transcript": "XM_047429024.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 923,
"aa_ref": "I",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12616,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2378,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047429025.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.2378T>C",
"hgvs_p": "p.Ile793Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284981.1",
"strand": false,
"transcript": "XM_047429025.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 737,
"aa_ref": "I",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12169,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047429026.1",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Ile607Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284982.1",
"strand": false,
"transcript": "XM_047429026.1",
"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": 5621,
"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": "ENST00000546433.5",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "n.*1749T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447629.1",
"strand": false,
"transcript": "ENST00000546433.5",
"transcript_support_level": 5
},
{
"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": 5621,
"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": "ENST00000546433.5",
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"hgvs_c": "n.*1749T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447629.1",
"strand": false,
"transcript": "ENST00000546433.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1457876763",
"effect": "missense_variant",
"frequency_reference_population": 0.000004961462,
"gene_hgnc_id": 30579,
"gene_symbol": "SSH1",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410884,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131439,
"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",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.477,
"pos": 108788382,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.045,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018984.4"
}
]
}