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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: 9-133442504-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133442504&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133442504,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000355699.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys",
"transcript": "NM_139027.6",
"protein_id": "NP_620596.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2074,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "ENST00000355699.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys",
"transcript": "ENST00000355699.7",
"protein_id": "ENSP00000347927.2",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2074,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "NM_139027.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys",
"transcript": "ENST00000371929.7",
"protein_id": "ENSP00000360997.3",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2074,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"transcript": "ENST00000356589.6",
"protein_id": "ENSP00000348997.2",
"transcript_support_level": 1,
"aa_start": 661,
"aa_end": null,
"aa_length": 1340,
"cds_start": 1981,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2101,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1236+1979C>T",
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys",
"transcript": "NM_139025.5",
"protein_id": "NP_620594.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2074,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.Arg661Cys",
"transcript": "NM_139026.6",
"protein_id": "NP_620595.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1340,
"cds_start": 1981,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2062C>T",
"hgvs_p": "p.Arg688Cys",
"transcript": "XM_017014232.2",
"protein_id": "XP_016869721.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2062,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.Arg717Cys",
"transcript": "XM_047422699.1",
"protein_id": "XP_047278655.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2149,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562Cys",
"transcript": "XM_017014233.2",
"protein_id": "XP_016869722.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1297,
"cds_start": 1684,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"transcript": "XM_011518176.4",
"protein_id": "XP_011516478.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"transcript": "XM_017014234.2",
"protein_id": "XP_016869723.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "XM_011518178.3",
"protein_id": "XP_011516480.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 982,
"cds_start": 739,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"transcript": "XM_011518179.1",
"protein_id": "XP_011516481.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 982,
"cds_start": 739,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys",
"transcript": "XM_017014235.2",
"protein_id": "XP_016869724.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 744,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1224+1979C>T",
"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,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*773-872C>T",
"hgvs_p": null,
"transcript": "ENST00000474918.1",
"protein_id": "ENSP00000435305.1",
"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": 2230,
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1252+1979C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1257+1979C>T",
"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,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1968+1979C>T",
"hgvs_p": null,
"transcript": "XM_047422700.1",
"protein_id": "XP_047278656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": -4,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"dbsnp": "rs121908475",
"frequency_reference_population": 0.000006817241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000547438,
"gnomad_genomes_af": 0.0000197106,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9577096104621887,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.3713,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.242,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000355699.7",
"gene_symbol": "ADAMTS13",
"hgnc_id": 1366,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Cys"
}
],
"clinvar_disease": "Upshaw-Schulman syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Upshaw-Schulman syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}