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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: 9-133449865-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133449865&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133449865,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355699.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Gly982Arg",
"transcript": "NM_139027.6",
"protein_id": "NP_620596.2",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2944,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "ENST00000355699.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Gly982Arg",
"transcript": "ENST00000355699.7",
"protein_id": "ENSP00000347927.2",
"transcript_support_level": 1,
"aa_start": 982,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2944,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "NM_139027.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Gly982Arg",
"transcript": "ENST00000371929.7",
"protein_id": "ENSP00000360997.3",
"transcript_support_level": 1,
"aa_start": 982,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2944,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2851G>A",
"hgvs_p": "p.Gly951Arg",
"transcript": "ENST00000356589.6",
"protein_id": "ENSP00000348997.2",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2851,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1760G>A",
"hgvs_p": null,
"transcript": "ENST00000485925.5",
"protein_id": null,
"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": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Gly982Arg",
"transcript": "NM_139025.5",
"protein_id": "NP_620594.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2944,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2851G>A",
"hgvs_p": "p.Gly951Arg",
"transcript": "NM_139026.6",
"protein_id": "NP_620595.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2851,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2932G>A",
"hgvs_p": "p.Gly978Arg",
"transcript": "XM_017014232.2",
"protein_id": "XP_016869721.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2932,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 3648,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3019G>A",
"hgvs_p": "p.Gly1007Arg",
"transcript": "XM_047422699.1",
"protein_id": "XP_047278655.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1396,
"cds_start": 3019,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 3096,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2554G>A",
"hgvs_p": "p.Gly852Arg",
"transcript": "XM_017014233.2",
"protein_id": "XP_016869722.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1297,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Gly654Arg",
"transcript": "XM_011518176.4",
"protein_id": "XP_011516478.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1960,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Gly652Arg",
"transcript": "XM_017014234.2",
"protein_id": "XP_016869723.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1954,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Gly537Arg",
"transcript": "XM_011518178.3",
"protein_id": "XP_011516480.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 982,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Gly537Arg",
"transcript": "XM_011518179.1",
"protein_id": "XP_011516481.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 982,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1776G>A",
"hgvs_p": null,
"transcript": "ENST00000495234.5",
"protein_id": "ENSP00000435274.1",
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1781G>A",
"hgvs_p": null,
"transcript": "NR_024514.3",
"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": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.*413G>A",
"hgvs_p": null,
"transcript": "ENST00000371916.5",
"protein_id": "ENSP00000360984.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1776G>A",
"hgvs_p": null,
"transcript": "ENST00000495234.5",
"protein_id": "ENSP00000435274.1",
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"dbsnp": "rs36222275",
"frequency_reference_population": 0.0014639865,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2363,
"gnomad_exomes_af": 0.0014982,
"gnomad_genomes_af": 0.00113571,
"gnomad_exomes_ac": 2190,
"gnomad_genomes_ac": 173,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013289004564285278,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4699999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.0941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.47,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000355699.7",
"gene_symbol": "ADAMTS13",
"hgnc_id": 1366,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Gly982Arg"
}
],
"clinvar_disease": "Upshaw-Schulman syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|not specified|Upshaw-Schulman syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}