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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: 6-131621897-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131621897&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131621897,
"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": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_004830.4",
"protein_id": "NP_004821.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1368,
"cds_start": 479,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000368068.8",
"protein_id": "ENSP00000357047.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 1368,
"cds_start": 479,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000354577.8",
"protein_id": "ENSP00000346588.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 1365,
"cds_start": 479,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 635,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000368060.7",
"protein_id": "ENSP00000357039.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 1364,
"cds_start": 479,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 659,
"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": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000368053.8",
"protein_id": "ENSP00000357032.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 886,
"cds_start": 479,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2811,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000539158.1",
"protein_id": "ENSP00000445072.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 475,
"cds_start": 479,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1636,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376517.1",
"protein_id": "NP_001363446.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1374,
"cds_start": 479,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "ENST00000368058.5",
"protein_id": "ENSP00000357037.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 1374,
"cds_start": 479,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 496,
"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": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_015979.4",
"protein_id": "NP_057063.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1365,
"cds_start": 479,
"cds_end": null,
"cds_length": 4098,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001270522.2",
"protein_id": "NP_001257451.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1364,
"cds_start": 479,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001270521.2",
"protein_id": "NP_001257450.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1359,
"cds_start": 479,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 672,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.407T>G",
"hgvs_p": "p.Leu136Arg",
"transcript": "NM_001376518.1",
"protein_id": "NP_001363447.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1350,
"cds_start": 407,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 491,
"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": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376519.1",
"protein_id": "NP_001363448.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1322,
"cds_start": 479,
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"cds_length": 3969,
"cdna_start": 672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376520.1",
"protein_id": "NP_001363449.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376521.1",
"protein_id": "NP_001363450.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 1318,
"cds_start": 479,
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"cds_length": 3957,
"cdna_start": 672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376522.1",
"protein_id": "NP_001363451.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376523.1",
"protein_id": "NP_001363452.1",
"transcript_support_level": null,
"aa_start": 160,
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"aa_length": 1283,
"cds_start": 479,
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"cdna_start": 672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "NM_001376524.1",
"protein_id": "NP_001363453.1",
"transcript_support_level": null,
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"cds_start": 479,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "MED23",
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"hgvs_c": "c.479T>G",
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"transcript": "XM_011536257.4",
"protein_id": "XP_011534559.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "XM_047419565.1",
"protein_id": "XP_047275521.1",
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"aa_end": null,
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},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg",
"transcript": "XM_006715612.4",
"protein_id": "XP_006715675.1",
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"aa_start": 160,
"aa_end": null,
"aa_length": 747,
"cds_start": 479,
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"cdna_start": 672,
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"cdna_length": 2522,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "MED23",
"gene_hgnc_id": 2372,
"dbsnp": "rs786205583",
"frequency_reference_population": 0.000008933861,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000893386,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8973382711410522,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.866,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000368068.8",
"gene_symbol": "MED23",
"hgnc_id": 2372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.479T>G",
"hgvs_p": "p.Leu160Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}