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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: 6-131596128-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131596128&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131596128,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000368068.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala",
"transcript": "NM_004830.4",
"protein_id": "NP_004821.2",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "ENST00000368068.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala",
"transcript": "ENST00000368068.8",
"protein_id": "ENSP00000357047.3",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "NM_004830.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Ala944Ala",
"transcript": "ENST00000354577.8",
"protein_id": "ENSP00000346588.4",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 1365,
"cds_start": 2832,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala",
"transcript": "ENST00000368060.7",
"protein_id": "ENSP00000357039.3",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1364,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Ala944Ala",
"transcript": "NM_001376517.1",
"protein_id": "NP_001363446.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2832,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Ala944Ala",
"transcript": "ENST00000368058.5",
"protein_id": "ENSP00000357037.1",
"transcript_support_level": 5,
"aa_start": 944,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2832,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 2849,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Ala944Ala",
"transcript": "NM_015979.4",
"protein_id": "NP_057063.2",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1365,
"cds_start": 2832,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala",
"transcript": "NM_001270522.2",
"protein_id": "NP_001257451.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1364,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala",
"transcript": "NM_001270521.2",
"protein_id": "NP_001257450.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2814,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2760G>C",
"hgvs_p": "p.Ala920Ala",
"transcript": "NM_001376518.1",
"protein_id": "NP_001363447.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1350,
"cds_start": 2760,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2676G>C",
"hgvs_p": "p.Ala892Ala",
"transcript": "NM_001376519.1",
"protein_id": "NP_001363448.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2676,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Ala891Ala",
"transcript": "NM_001376520.1",
"protein_id": "NP_001363449.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2676G>C",
"hgvs_p": "p.Ala892Ala",
"transcript": "NM_001376521.1",
"protein_id": "NP_001363450.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2676,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2643G>C",
"hgvs_p": "p.Ala881Ala",
"transcript": "NM_001376522.1",
"protein_id": "NP_001363451.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1311,
"cds_start": 2643,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2559G>C",
"hgvs_p": "p.Ala853Ala",
"transcript": "NM_001376523.1",
"protein_id": "NP_001363452.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2559,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 2752,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2427G>C",
"hgvs_p": "p.Ala809Ala",
"transcript": "NM_001376524.1",
"protein_id": "NP_001363453.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2718G>C",
"hgvs_p": "p.Ala906Ala",
"transcript": "XM_011536257.4",
"protein_id": "XP_011534559.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2718,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Ala944Ala",
"transcript": "XM_047419565.1",
"protein_id": "XP_047275521.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "n.394G>C",
"hgvs_p": null,
"transcript": "ENST00000479213.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"dbsnp": "rs145230681",
"frequency_reference_population": 6.840685e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84068e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.879,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368068.8",
"gene_symbol": "MED23",
"hgnc_id": 2372,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2814G>C",
"hgvs_p": "p.Ala938Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}