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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: X-53537626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53537626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53537626,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262854.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12067C>T",
"hgvs_p": "p.Arg4023Cys",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 4023,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12067,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12460,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12067C>T",
"hgvs_p": "p.Arg4023Cys",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 4023,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12067,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12460,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12067C>T",
"hgvs_p": "p.Arg4023Cys",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 4023,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12067,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12357,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12067C>T",
"hgvs_p": "p.Arg4023Cys",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 4023,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12067,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12525,
"cdna_end": null,
"cdna_length": 14796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12064C>T",
"hgvs_p": "p.Arg4022Cys",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 4022,
"aa_end": null,
"aa_length": 4373,
"cds_start": 12064,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 12457,
"cdna_end": null,
"cdna_length": 14728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12064C>T",
"hgvs_p": "p.Arg4022Cys",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 4022,
"aa_end": null,
"aa_length": 4373,
"cds_start": 12064,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 12489,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12043C>T",
"hgvs_p": "p.Arg4015Cys",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 4015,
"aa_end": null,
"aa_length": 4366,
"cds_start": 12043,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 12436,
"cdna_end": null,
"cdna_length": 14707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12043C>T",
"hgvs_p": "p.Arg4015Cys",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 4015,
"aa_end": null,
"aa_length": 4366,
"cds_start": 12043,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 12468,
"cdna_end": null,
"cdna_length": 14739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12040C>T",
"hgvs_p": "p.Arg4014Cys",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 4014,
"aa_end": null,
"aa_length": 4365,
"cds_start": 12040,
"cds_end": null,
"cds_length": 13098,
"cdna_start": 12040,
"cdna_end": null,
"cdna_length": 14311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12022C>T",
"hgvs_p": "p.Arg4008Cys",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 4008,
"aa_end": null,
"aa_length": 4359,
"cds_start": 12022,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 12415,
"cdna_end": null,
"cdna_length": 14686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12022C>T",
"hgvs_p": "p.Arg4008Cys",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 4008,
"aa_end": null,
"aa_length": 4359,
"cds_start": 12022,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 12447,
"cdna_end": null,
"cdna_length": 14718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12019C>T",
"hgvs_p": "p.Arg4007Cys",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 4007,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12019,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 12412,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12019C>T",
"hgvs_p": "p.Arg4007Cys",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
"transcript_support_level": null,
"aa_start": 4007,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12019,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 12444,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12019C>T",
"hgvs_p": "p.Arg4007Cys",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 4007,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12019,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 12309,
"cdna_end": null,
"cdna_length": 14580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11851C>T",
"hgvs_p": "p.Arg3951Cys",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 3951,
"aa_end": null,
"aa_length": 4302,
"cds_start": 11851,
"cds_end": null,
"cds_length": 12909,
"cdna_start": 12296,
"cdna_end": null,
"cdna_length": 14522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11665C>T",
"hgvs_p": "p.Arg3889Cys",
"transcript": "NM_001441052.1",
"protein_id": "NP_001427981.1",
"transcript_support_level": null,
"aa_start": 3889,
"aa_end": null,
"aa_length": 4240,
"cds_start": 11665,
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"cds_length": 12723,
"cdna_start": 12090,
"cdna_end": null,
"cdna_length": 14361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Arg845Cys",
"transcript": "ENST00000426907.5",
"protein_id": "ENSP00000403236.1",
"transcript_support_level": 5,
"aa_start": 845,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2533,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12337C>T",
"hgvs_p": "p.Arg4113Cys",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4464,
"cds_start": 12337,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12762,
"cdna_end": null,
"cdna_length": 15033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12337C>T",
"hgvs_p": "p.Arg4113Cys",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4464,
"cds_start": 12337,
"cds_end": null,
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"cdna_start": 12730,
"cdna_end": null,
"cdna_length": 15001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12337C>T",
"hgvs_p": "p.Arg4113Cys",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4464,
"cds_start": 12337,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12834,
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"cdna_length": 15105,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12337C>T",
"hgvs_p": "p.Arg4113Cys",
"transcript": "XM_017029203.2",
"protein_id": "XP_016884692.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4464,
"cds_start": 12337,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12627,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12337C>T",
"hgvs_p": "p.Arg4113Cys",
"transcript": "XM_047441711.1",
"protein_id": "XP_047297667.1",
"transcript_support_level": null,
"aa_start": 4113,
"aa_end": null,
"aa_length": 4464,
"cds_start": 12337,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12656,
"cdna_end": null,
"cdna_length": 14927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
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],
"gene_symbol": "HUWE1",
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"dbsnp": "rs1556914274",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_exomes_ac": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9610123038291931,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.706,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.994,
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"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.663,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
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"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262854.11",
"gene_symbol": "HUWE1",
"hgnc_id": 30892,
"effects": [
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],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.12067C>T",
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}
],
"clinvar_disease": " Turner type, X-linked syndromic,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:4 US:1",
"phenotype_combined": "Intellectual disability, X-linked syndromic, Turner type|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}