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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: 16-50321998-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50321998&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50321998,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438173.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Thr495Arg",
"transcript": "NM_013263.5",
"protein_id": "NP_037395.2",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 651,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": "ENST00000394688.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013263.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Thr495Arg",
"transcript": "ENST00000394688.8",
"protein_id": "ENSP00000378180.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 651,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": "NM_013263.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394688.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Thr495Arg",
"transcript": "ENST00000394689.2",
"protein_id": "ENSP00000378181.2",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 652,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394689.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1607C>G",
"hgvs_p": "p.Thr536Arg",
"transcript": "ENST00000710357.1",
"protein_id": "ENSP00000518228.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 692,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710357.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Arg",
"transcript": "NM_001438173.1",
"protein_id": "NP_001425102.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 669,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438173.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Arg",
"transcript": "NM_001437990.1",
"protein_id": "NP_001424919.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 668,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437990.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Arg",
"transcript": "ENST00000710356.1",
"protein_id": "ENSP00000518227.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 668,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710356.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Thr495Arg",
"transcript": "NM_001173984.4",
"protein_id": "NP_001167455.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 652,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173984.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Thr459Arg",
"transcript": "NM_001438174.1",
"protein_id": "NP_001425103.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 616,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438174.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Thr459Arg",
"transcript": "NM_001438175.1",
"protein_id": "NP_001425104.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 615,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438175.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Thr476Arg",
"transcript": "XM_011523048.3",
"protein_id": "XP_011521350.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 633,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523048.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Thr476Arg",
"transcript": "XM_011523049.3",
"protein_id": "XP_011521351.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 632,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 5367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523049.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Thr352Arg",
"transcript": "XM_047434006.1",
"protein_id": "XP_047289962.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 509,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434006.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1423C>G",
"hgvs_p": "p.Gln475Glu",
"transcript": "XM_047434007.1",
"protein_id": "XP_047289963.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 484,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434007.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.1423C>G",
"hgvs_p": "p.Gln475Glu",
"transcript": "XM_047434008.1",
"protein_id": "XP_047289964.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 483,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434008.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Thr293Arg",
"transcript": "XM_011523050.4",
"protein_id": "XP_011521352.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 450,
"cds_start": 878,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523050.4"
}
],
"gene_symbol": "BRD7",
"gene_hgnc_id": 14310,
"dbsnp": "rs753971768",
"frequency_reference_population": 0.000005485351,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000548535,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08441135287284851,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0875,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.855,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438173.1",
"gene_symbol": "BRD7",
"hgnc_id": 14310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}