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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: 13-48083388-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48083388&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48083388,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014166.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "NM_014166.4",
"protein_id": "NP_054885.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 270,
"cds_start": 404,
"cds_end": null,
"cds_length": 813,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "ENST00000258648.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014166.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "ENST00000258648.7",
"protein_id": "ENSP00000258648.2",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 270,
"cds_start": 404,
"cds_end": null,
"cds_length": 813,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "NM_014166.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258648.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "ENST00000963481.1",
"protein_id": "ENSP00000633540.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 282,
"cds_start": 404,
"cds_end": null,
"cds_length": 849,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963481.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "ENST00000898190.1",
"protein_id": "ENSP00000568249.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 275,
"cds_start": 404,
"cds_end": null,
"cds_length": 828,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898190.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "ENST00000898194.1",
"protein_id": "ENSP00000568253.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 264,
"cds_start": 404,
"cds_end": null,
"cds_length": 795,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898194.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000898193.1",
"protein_id": "ENSP00000568252.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 260,
"cds_start": 374,
"cds_end": null,
"cds_length": 783,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898193.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"transcript": "ENST00000417167.2",
"protein_id": "ENSP00000413595.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 237,
"cds_start": 338,
"cds_end": null,
"cds_length": 715,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417167.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr",
"transcript": "ENST00000898192.1",
"protein_id": "ENSP00000568251.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 226,
"cds_start": 404,
"cds_end": null,
"cds_length": 681,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898192.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Ile89Thr",
"transcript": "NM_001270629.2",
"protein_id": "NP_001257558.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 224,
"cds_start": 266,
"cds_end": null,
"cds_length": 675,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270629.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Ile89Thr",
"transcript": "ENST00000378586.5",
"protein_id": "ENSP00000367849.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 224,
"cds_start": 266,
"cds_end": null,
"cds_length": 675,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378586.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"transcript": "ENST00000898191.1",
"protein_id": "ENSP00000568250.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 213,
"cds_start": 233,
"cds_end": null,
"cds_length": 642,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898191.1"
}
],
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"dbsnp": "rs200299398",
"frequency_reference_population": 0.000005581125,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547774,
"gnomad_genomes_af": 0.00000657367,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8628993034362793,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.555,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4433,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.729,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014166.4",
"gene_symbol": "MED4",
"hgnc_id": 17903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404T>C",
"hgvs_p": "p.Ile135Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}