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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-40679958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40679958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40679958,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004229.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "NM_004229.4",
"protein_id": "NP_004220.2",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2786,
"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": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "ENST00000324817.6",
"protein_id": "ENSP00000323720.1",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "ENST00000918215.1",
"protein_id": "ENSP00000588274.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1514,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "ENST00000883181.1",
"protein_id": "ENSP00000553240.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1485,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903Gln",
"transcript": "ENST00000918216.1",
"protein_id": "ENSP00000588275.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1428,
"cds_start": 2708,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2702G>A",
"hgvs_p": "p.Arg901Gln",
"transcript": "ENST00000883184.1",
"protein_id": "ENSP00000553243.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2702,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935Gln",
"transcript": "ENST00000918217.1",
"protein_id": "ENSP00000588276.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1416,
"cds_start": 2804,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "ENST00000883182.1",
"protein_id": "ENSP00000553241.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "ENST00000883183.1",
"protein_id": "ENSP00000553242.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1358,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Gln",
"transcript": "XM_047442636.1",
"protein_id": "XP_047298592.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1488,
"cds_start": 2888,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Gln",
"transcript": "XM_047442637.1",
"protein_id": "XP_047298593.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1477,
"cds_start": 2888,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Gln",
"transcript": "XM_047442638.1",
"protein_id": "XP_047298594.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1444,
"cds_start": 2888,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047442639.1",
"protein_id": "XP_047298595.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2786,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Gln",
"transcript": "XM_047442640.1",
"protein_id": "XP_047298596.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1433,
"cds_start": 2888,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047442641.1",
"protein_id": "XP_047298597.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2786,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln",
"transcript": "XM_047442642.1",
"protein_id": "XP_047298598.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1399,
"cds_start": 2786,
"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"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "c.2438G>A",
"hgvs_p": "p.Arg813Gln",
"transcript": "XM_047442643.1",
"protein_id": "XP_047298599.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1338,
"cds_start": 2438,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"hgvs_c": "n.474+800G>A",
"hgvs_p": null,
"transcript": "ENST00000496531.2",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496531.2"
}
],
"gene_symbol": "MED14",
"gene_hgnc_id": 2370,
"dbsnp": "rs1163992897",
"frequency_reference_population": 0.000005472226,
"hom_count_reference_population": 3,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000547223,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36393672227859497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2014,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.633,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004229.4",
"gene_symbol": "MED14",
"hgnc_id": 2370,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929Gln"
}
],
"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
}