← Back to variant description
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: 1-36418198-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36418198&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 36418198,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145047.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Gln361Lys",
"transcript": "NM_145047.5",
"protein_id": "NP_659484.4",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 379,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": "ENST00000235532.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Gln361Lys",
"transcript": "ENST00000235532.9",
"protein_id": "ENSP00000235532.5",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 379,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": "NM_145047.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Gln371Lys",
"transcript": "NM_001330493.2",
"protein_id": "NP_001317422.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 389,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Gln371Lys",
"transcript": "ENST00000356637.9",
"protein_id": "ENSP00000349052.5",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 389,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.946C>A",
"hgvs_p": "p.Gln316Lys",
"transcript": "ENST00000433045.6",
"protein_id": "ENSP00000390820.2",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 334,
"cds_start": 946,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Gln343Lys",
"transcript": "XM_011540680.3",
"protein_id": "XP_011538982.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 361,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Gln333Lys",
"transcript": "XM_011540681.4",
"protein_id": "XP_011538983.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 351,
"cds_start": 997,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 1530,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "n.361C>A",
"hgvs_p": null,
"transcript": "ENST00000471369.1",
"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": 648,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "n.366C>A",
"hgvs_p": null,
"transcript": "ENST00000495222.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 658,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.*83C>A",
"hgvs_p": null,
"transcript": "ENST00000445843.7",
"protein_id": "ENSP00000396417.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.*83C>A",
"hgvs_p": null,
"transcript": "XM_005270462.2",
"protein_id": "XP_005270519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"hgvs_c": "c.234+793C>A",
"hgvs_p": null,
"transcript": "ENST00000468441.5",
"protein_id": "ENSP00000426981.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297367",
"gene_hgnc_id": null,
"hgvs_c": "n.92+12260G>T",
"hgvs_p": null,
"transcript": "ENST00000747486.1",
"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": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297367",
"gene_hgnc_id": null,
"hgvs_c": "n.389-2265G>T",
"hgvs_p": null,
"transcript": "ENST00000747493.1",
"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": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297367",
"gene_hgnc_id": null,
"hgvs_c": "n.64+2174G>T",
"hgvs_p": null,
"transcript": "ENST00000747497.1",
"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": 395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA63C",
"gene_hgnc_id": 52210,
"hgvs_c": "n.*250C>A",
"hgvs_p": null,
"transcript": "NR_145725.1",
"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": 131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSCP1",
"gene_hgnc_id": 29971,
"dbsnp": "rs1452991218",
"frequency_reference_population": 0.000006570475,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05301085114479065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.278,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145047.5",
"gene_symbol": "OSCP1",
"hgnc_id": 29971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Gln361Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000747486.1",
"gene_symbol": "ENSG00000297367",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.92+12260G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_145725.1",
"gene_symbol": "SNORA63C",
"hgnc_id": 52210,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*250C>A",
"hgvs_p": null
}
],
"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
}