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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-10459732-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=10459732&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 10459732,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000317552.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "NM_000381.4",
"protein_id": "NP_000372.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": "ENST00000317552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000317552.9",
"protein_id": "ENSP00000312678.4",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": "NM_000381.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000380779.5",
"protein_id": "ENSP00000370156.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000380780.5",
"protein_id": "ENSP00000370157.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000380787.5",
"protein_id": "ENSP00000370164.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000380782.6",
"protein_id": "ENSP00000370159.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 552,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Gln505Arg",
"transcript": "ENST00000675073.1",
"protein_id": "ENSP00000501707.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 718,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "NM_001098624.2",
"protein_id": "NP_001092094.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "NM_001193277.1",
"protein_id": "NP_001180206.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "NM_001347733.2",
"protein_id": "NP_001334662.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "NM_033290.4",
"protein_id": "NP_150632.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 6248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000380785.5",
"protein_id": "ENSP00000370162.1",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000413894.6",
"protein_id": "ENSP00000391154.2",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg",
"transcript": "ENST00000453318.6",
"protein_id": "ENSP00000414521.2",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Gln418Arg",
"transcript": "ENST00000691943.1",
"protein_id": "ENSP00000508663.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 631,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Gln416Arg",
"transcript": "NM_033289.2",
"protein_id": "NP_150631.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 629,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 6300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Gln416Arg",
"transcript": "ENST00000689773.1",
"protein_id": "ENSP00000509925.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 629,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Gln416Arg",
"transcript": "ENST00000690004.1",
"protein_id": "ENSP00000509730.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 629,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Gln165Arg",
"transcript": "ENST00000674917.1",
"protein_id": "ENSP00000502171.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 370,
"cds_start": 494,
"cds_end": null,
"cds_length": 1115,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "n.311A>G",
"hgvs_p": null,
"transcript": "ENST00000479925.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"dbsnp": "rs1556004400",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6603546142578125,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.515,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000317552.9",
"gene_symbol": "MID1",
"hgnc_id": 7095,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Gln454Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,X-linked Opitz G/BBB syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Inborn genetic diseases|X-linked Opitz G/BBB syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}