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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: 9-134048349-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=134048349&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 134048349,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007371.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "NM_007371.4",
"protein_id": "NP_031397.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303407.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007371.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000303407.12",
"protein_id": "ENSP00000305918.6",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007371.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303407.12"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000371834.6",
"protein_id": "ENSP00000360900.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 556,
"cds_start": 820,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371834.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000883998.1",
"protein_id": "ENSP00000554057.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883998.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000884001.1",
"protein_id": "ENSP00000554060.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884001.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000933194.1",
"protein_id": "ENSP00000603253.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933194.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000883997.1",
"protein_id": "ENSP00000554056.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 725,
"cds_start": 820,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883997.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000884000.1",
"protein_id": "ENSP00000554059.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 725,
"cds_start": 820,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884000.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.781A>C",
"hgvs_p": "p.Lys261Gln",
"transcript": "ENST00000883999.1",
"protein_id": "ENSP00000554058.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 713,
"cds_start": 781,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883999.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.781A>C",
"hgvs_p": "p.Lys261Gln",
"transcript": "ENST00000884002.1",
"protein_id": "ENSP00000554061.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 713,
"cds_start": 781,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884002.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.781A>C",
"hgvs_p": "p.Lys261Gln",
"transcript": "ENST00000933195.1",
"protein_id": "ENSP00000603254.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 712,
"cds_start": 781,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933195.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "ENST00000933196.1",
"protein_id": "ENSP00000603255.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 661,
"cds_start": 820,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933196.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_006717291.4",
"protein_id": "XP_006717354.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717291.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_011519052.3",
"protein_id": "XP_011517354.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519052.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_047423903.1",
"protein_id": "XP_047279859.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423903.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_047423904.1",
"protein_id": "XP_047279860.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 726,
"cds_start": 820,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423904.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_017015165.3",
"protein_id": "XP_016870654.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 725,
"cds_start": 820,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015165.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_047423905.1",
"protein_id": "XP_047279861.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 725,
"cds_start": 820,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423905.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln",
"transcript": "XM_047423906.1",
"protein_id": "XP_047279862.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 725,
"cds_start": 820,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423906.1"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "c.714+2025A>C",
"hgvs_p": null,
"transcript": "ENST00000933197.1",
"protein_id": "ENSP00000603256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933197.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"hgvs_c": "n.160A>C",
"hgvs_p": null,
"transcript": "ENST00000494743.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000494743.1"
}
],
"gene_symbol": "BRD3",
"gene_hgnc_id": 1104,
"dbsnp": "rs1321690570",
"frequency_reference_population": 0.000016883505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.00000898425,
"gnomad_genomes_af": 0.0000919734,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17484647035598755,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.2901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.793,
"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": -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_007371.4",
"gene_symbol": "BRD3",
"hgnc_id": 1104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.820A>C",
"hgvs_p": "p.Lys274Gln"
}
],
"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
}