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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: 7-2538140-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2538140&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2538140,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152743.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.Pro799Ser",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 821,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.Pro799Ser",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 799,
"aa_end": null,
"aa_length": 821,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2575C>T",
"hgvs_p": "p.Pro859Ser",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 881,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Pro624Ser",
"transcript": "NM_001350627.2",
"protein_id": "NP_001337556.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 646,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2659C>T",
"hgvs_p": "p.Pro887Ser",
"transcript": "XM_011515177.3",
"protein_id": "XP_011513479.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 909,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2659C>T",
"hgvs_p": "p.Pro887Ser",
"transcript": "XM_011515178.2",
"protein_id": "XP_011513480.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 909,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 3159,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2656C>T",
"hgvs_p": "p.Pro886Ser",
"transcript": "XM_011515179.3",
"protein_id": "XP_011513481.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 908,
"cds_start": 2656,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2572C>T",
"hgvs_p": "p.Pro858Ser",
"transcript": "XM_047420028.1",
"protein_id": "XP_047275984.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 880,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Pro827Ser",
"transcript": "XM_011515181.3",
"protein_id": "XP_011513483.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 849,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2392C>T",
"hgvs_p": "p.Pro798Ser",
"transcript": "XM_017011834.2",
"protein_id": "XP_016867323.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 820,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2134C>T",
"hgvs_p": "p.Pro712Ser",
"transcript": "XM_011515184.4",
"protein_id": "XP_011513486.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 734,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.2134C>T",
"hgvs_p": "p.Pro712Ser",
"transcript": "XM_047420030.1",
"protein_id": "XP_047275986.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 734,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Pro624Ser",
"transcript": "XM_047420031.1",
"protein_id": "XP_047275987.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 646,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Pro411Ser",
"transcript": "XM_024446682.2",
"protein_id": "XP_024302450.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 433,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1618,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.4181C>T",
"hgvs_p": null,
"transcript": "ENST00000467558.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 4440,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.4967C>T",
"hgvs_p": null,
"transcript": "ENST00000469750.5",
"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": 5226,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.5101C>T",
"hgvs_p": null,
"transcript": "ENST00000493232.5",
"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": 5360,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.2578C>T",
"hgvs_p": null,
"transcript": "NR_146879.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.*542C>T",
"hgvs_p": null,
"transcript": "XM_011515186.3",
"protein_id": "XP_011513488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.*542C>T",
"hgvs_p": null,
"transcript": "XM_047420032.1",
"protein_id": "XP_047275988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.*542C>T",
"hgvs_p": null,
"transcript": "XM_017011836.3",
"protein_id": "XP_016867325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.*542C>T",
"hgvs_p": null,
"transcript": "XM_047420033.1",
"protein_id": "XP_047275989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": -4,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"dbsnp": "rs762276921",
"frequency_reference_population": 0.0000027488763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274888,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6163405179977417,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.3289,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.472,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152743.4",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2395C>T",
"hgvs_p": "p.Pro799Ser"
}
],
"clinvar_disease": "Neonatal-onset encephalopathy with rigidity and seizures",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neonatal-onset encephalopathy with rigidity and seizures",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}