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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: 10-14936550-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14936550&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14936550,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378278.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "NM_001033855.3",
"protein_id": "NP_001029027.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 692,
"cds_start": 350,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "ENST00000378278.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "ENST00000378278.7",
"protein_id": "ENSP00000367527.2",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 692,
"cds_start": 350,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "NM_001033855.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "ENST00000378289.8",
"protein_id": "ENSP00000367538.4",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 434,
"cds_start": 350,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 3532,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*310C>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"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": 2485,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"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": 2807,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*270C>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"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": 2463,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*592C>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*310C>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"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": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*270C>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"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": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*592C>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"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": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*21-986C>T",
"hgvs_p": null,
"transcript": "ENST00000357717.6",
"protein_id": "ENSP00000350349.3",
"transcript_support_level": 1,
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.307-986C>T",
"hgvs_p": null,
"transcript": "ENST00000378246.6",
"protein_id": "ENSP00000367492.3",
"transcript_support_level": 1,
"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": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*141-986C>T",
"hgvs_p": null,
"transcript": "ENST00000378249.5",
"protein_id": "ENSP00000367496.2",
"transcript_support_level": 1,
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001033857.3",
"protein_id": "NP_001029029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001033858.3",
"protein_id": "NP_001029030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001289077.2",
"protein_id": "NP_001276006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001289079.2",
"protein_id": "NP_001276008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001350967.2",
"protein_id": "NP_001337896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "XM_047425652.1",
"protein_id": "XP_047281608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "ENST00000697070.1",
"protein_id": "ENSP00000513085.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 725,
"cds_start": 350,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"transcript": "ENST00000697084.1",
"protein_id": "ENSP00000513098.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 711,
"cds_start": 350,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.350C>T",
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}
],
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"dbsnp": "rs757316102",
"frequency_reference_population": 0.000035352958,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000369726,
"gnomad_genomes_af": 0.0000197668,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9273478984832764,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.865,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.689,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.17,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378278.7",
"gene_symbol": "DCLRE1C",
"hgnc_id": 17642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu"
}
],
"clinvar_disease": "Athabaskan severe combined immunodeficiency,Histiocytic medullary reticulosis,Inborn genetic diseases,Severe combined immunodeficiency due to DCLRE1C deficiency,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Histiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency|not specified|Athabaskan severe combined immunodeficiency|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}