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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: X-40651813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40651813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40651813,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004229.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4358G>A",
"hgvs_p": "p.Arg1453His",
"transcript": "NM_004229.4",
"protein_id": "NP_004220.2",
"transcript_support_level": null,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4358,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324817.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004229.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4358G>A",
"hgvs_p": "p.Arg1453His",
"transcript": "ENST00000324817.6",
"protein_id": "ENSP00000323720.1",
"transcript_support_level": 1,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4358,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004229.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324817.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4538G>A",
"hgvs_p": "p.Arg1513His",
"transcript": "ENST00000918215.1",
"protein_id": "ENSP00000588274.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1514,
"cds_start": 4538,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918215.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4451G>A",
"hgvs_p": "p.Arg1484His",
"transcript": "ENST00000883181.1",
"protein_id": "ENSP00000553240.1",
"transcript_support_level": null,
"aa_start": 1484,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4451,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883181.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4280G>A",
"hgvs_p": "p.Arg1427His",
"transcript": "ENST00000918216.1",
"protein_id": "ENSP00000588275.1",
"transcript_support_level": null,
"aa_start": 1427,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4280,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918216.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4274G>A",
"hgvs_p": "p.Arg1425His",
"transcript": "ENST00000883184.1",
"protein_id": "ENSP00000553243.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1426,
"cds_start": 4274,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883184.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4244G>A",
"hgvs_p": "p.Arg1415His",
"transcript": "ENST00000918217.1",
"protein_id": "ENSP00000588276.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1416,
"cds_start": 4244,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918217.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4226G>A",
"hgvs_p": "p.Arg1409His",
"transcript": "ENST00000883182.1",
"protein_id": "ENSP00000553241.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4226,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883182.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4070G>A",
"hgvs_p": "p.Arg1357His",
"transcript": "ENST00000883183.1",
"protein_id": "ENSP00000553242.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1358,
"cds_start": 4070,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883183.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4460G>A",
"hgvs_p": "p.Arg1487His",
"transcript": "XM_047442636.1",
"protein_id": "XP_047298592.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4460,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442636.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4328G>A",
"hgvs_p": "p.Arg1443His",
"transcript": "XM_047442638.1",
"protein_id": "XP_047298594.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1444,
"cds_start": 4328,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442638.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4226G>A",
"hgvs_p": "p.Arg1409His",
"transcript": "XM_047442641.1",
"protein_id": "XP_047298597.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4226,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442641.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4010G>A",
"hgvs_p": "p.Arg1337His",
"transcript": "XM_047442643.1",
"protein_id": "XP_047298599.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1338,
"cds_start": 4010,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.428-2141G>A",
"hgvs_p": null,
"transcript": "ENST00000416199.5",
"protein_id": "ENSP00000392586.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4394-2141G>A",
"hgvs_p": null,
"transcript": "XM_047442637.1",
"protein_id": "XP_047298593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": null,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4292-2141G>A",
"hgvs_p": null,
"transcript": "XM_047442639.1",
"protein_id": "XP_047298595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1443,
"cds_start": null,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4262-2141G>A",
"hgvs_p": null,
"transcript": "XM_047442640.1",
"protein_id": "XP_047298596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1433,
"cds_start": null,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.4160-2141G>A",
"hgvs_p": null,
"transcript": "XM_047442642.1",
"protein_id": "XP_047298598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": null,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442642.1"
}
],
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"dbsnp": "rs756934224",
"frequency_reference_population": 0.0000016796391,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 9.27317e-7,
"gnomad_genomes_af": 0.0000089006,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.061707377433776855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.2096,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.747,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004229.4",
"gene_symbol": "MED14",
"hgnc_id": 2370,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4358G>A",
"hgvs_p": "p.Arg1453His"
}
],
"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
}