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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: 6-131594254-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131594254&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131594254,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000368068.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3077T>G",
"hgvs_p": "p.Leu1026Arg",
"transcript": "NM_004830.4",
"protein_id": "NP_004821.2",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "ENST00000368068.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3077T>G",
"hgvs_p": "p.Leu1026Arg",
"transcript": "ENST00000368068.8",
"protein_id": "ENSP00000357047.3",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "NM_004830.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3095T>G",
"hgvs_p": "p.Leu1032Arg",
"transcript": "ENST00000354577.8",
"protein_id": "ENSP00000346588.4",
"transcript_support_level": 1,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3095,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3077T>G",
"hgvs_p": "p.Leu1026Arg",
"transcript": "ENST00000368060.7",
"protein_id": "ENSP00000357039.3",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3095T>G",
"hgvs_p": "p.Leu1032Arg",
"transcript": "NM_001376517.1",
"protein_id": "NP_001363446.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3095,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3095T>G",
"hgvs_p": "p.Leu1032Arg",
"transcript": "ENST00000368058.5",
"protein_id": "ENSP00000357037.1",
"transcript_support_level": 5,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3095,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3095T>G",
"hgvs_p": "p.Leu1032Arg",
"transcript": "NM_015979.4",
"protein_id": "NP_057063.2",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3095,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3077T>G",
"hgvs_p": "p.Leu1026Arg",
"transcript": "NM_001270522.2",
"protein_id": "NP_001257451.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3077T>G",
"hgvs_p": "p.Leu1026Arg",
"transcript": "NM_001270521.2",
"protein_id": "NP_001257450.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3023T>G",
"hgvs_p": "p.Leu1008Arg",
"transcript": "NM_001376518.1",
"protein_id": "NP_001363447.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2939T>G",
"hgvs_p": "p.Leu980Arg",
"transcript": "NM_001376519.1",
"protein_id": "NP_001363448.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2936T>G",
"hgvs_p": "p.Leu979Arg",
"transcript": "NM_001376520.1",
"protein_id": "NP_001363449.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2939T>G",
"hgvs_p": "p.Leu980Arg",
"transcript": "NM_001376521.1",
"protein_id": "NP_001363450.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2906T>G",
"hgvs_p": "p.Leu969Arg",
"transcript": "NM_001376522.1",
"protein_id": "NP_001363451.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1311,
"cds_start": 2906,
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"cds_length": 3936,
"cdna_start": 3099,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2822T>G",
"hgvs_p": "p.Leu941Arg",
"transcript": "NM_001376523.1",
"protein_id": "NP_001363452.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1283,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2690T>G",
"hgvs_p": "p.Leu897Arg",
"transcript": "NM_001376524.1",
"protein_id": "NP_001363453.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2690,
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"cds_length": 3720,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.2981T>G",
"hgvs_p": "p.Leu994Arg",
"transcript": "XM_011536257.4",
"protein_id": "XP_011534559.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2981,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3095T>G",
"hgvs_p": "p.Leu1032Arg",
"transcript": "XM_047419565.1",
"protein_id": "XP_047275521.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3288,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "n.657T>G",
"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": "rs1554253506",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-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": 0.9241074323654175,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.861,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.032,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368068.8",
"gene_symbol": "MED23",
"hgnc_id": 2372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3077T>G",
"hgvs_p": "p.Leu1026Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}