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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: 6-131589544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131589544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131589544,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001376517.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3860A>G",
"hgvs_p": "p.His1287Arg",
"transcript": "NM_004830.4",
"protein_id": "NP_004821.2",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "ENST00000368068.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004830.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3860A>G",
"hgvs_p": "p.His1287Arg",
"transcript": "ENST00000368068.8",
"protein_id": "ENSP00000357047.3",
"transcript_support_level": 1,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": "NM_004830.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368068.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3878A>G",
"hgvs_p": "p.His1293Arg",
"transcript": "ENST00000354577.8",
"protein_id": "ENSP00000346588.4",
"transcript_support_level": 1,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354577.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3860A>G",
"hgvs_p": "p.His1287Arg",
"transcript": "ENST00000368060.7",
"protein_id": "ENSP00000357039.3",
"transcript_support_level": 1,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368060.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3878A>G",
"hgvs_p": "p.His1293Arg",
"transcript": "NM_001376517.1",
"protein_id": "NP_001363446.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376517.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3878A>G",
"hgvs_p": "p.His1293Arg",
"transcript": "ENST00000368058.5",
"protein_id": "ENSP00000357037.1",
"transcript_support_level": 5,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3895,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368058.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3878A>G",
"hgvs_p": "p.His1293Arg",
"transcript": "NM_015979.4",
"protein_id": "NP_057063.2",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3878,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015979.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3860A>G",
"hgvs_p": "p.His1287Arg",
"transcript": "NM_001270522.2",
"protein_id": "NP_001257451.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270522.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3848A>G",
"hgvs_p": "p.His1283Arg",
"transcript": "ENST00000883258.1",
"protein_id": "ENSP00000553317.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3848,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883258.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3860A>G",
"hgvs_p": "p.His1287Arg",
"transcript": "NM_001270521.2",
"protein_id": "NP_001257450.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3860,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270521.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3806A>G",
"hgvs_p": "p.His1269Arg",
"transcript": "NM_001376518.1",
"protein_id": "NP_001363447.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376518.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3722A>G",
"hgvs_p": "p.His1241Arg",
"transcript": "NM_001376519.1",
"protein_id": "NP_001363448.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3722,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376519.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3719A>G",
"hgvs_p": "p.His1240Arg",
"transcript": "NM_001376520.1",
"protein_id": "NP_001363449.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3719,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376520.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3722A>G",
"hgvs_p": "p.His1241Arg",
"transcript": "NM_001376521.1",
"protein_id": "NP_001363450.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3722,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376521.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3689A>G",
"hgvs_p": "p.His1230Arg",
"transcript": "NM_001376522.1",
"protein_id": "NP_001363451.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3689,
"cds_end": null,
"cds_length": 3936,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376522.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3605A>G",
"hgvs_p": "p.His1202Arg",
"transcript": "NM_001376523.1",
"protein_id": "NP_001363452.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3605,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376523.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3473A>G",
"hgvs_p": "p.His1158Arg",
"transcript": "NM_001376524.1",
"protein_id": "NP_001363453.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376524.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.3764A>G",
"hgvs_p": "p.His1255Arg",
"transcript": "XM_011536257.4",
"protein_id": "XP_011534559.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536257.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "n.1985A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479213.1"
}
],
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"dbsnp": "rs150598354",
"frequency_reference_population": 0.0005434116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 877,
"gnomad_exomes_af": 0.000559667,
"gnomad_genomes_af": 0.000387409,
"gnomad_exomes_ac": 818,
"gnomad_genomes_ac": 59,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09958168864250183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.017,
"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": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001376517.1",
"gene_symbol": "MED23",
"hgnc_id": 2372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3878A>G",
"hgvs_p": "p.His1293Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}