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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: 9-113323143-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113323143&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR31",
"hgnc_id": 21421,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001012361.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 102795,
"alphamissense_prediction": null,
"alphamissense_score": 0.0965,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0017173290252685547,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001012361.4",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374193.9",
"protein_coding": true,
"protein_id": "NP_001012361.1",
"strand": false,
"transcript": "NM_001012361.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000374193.9",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012361.4",
"protein_coding": true,
"protein_id": "ENSP00000363308.3",
"strand": false,
"transcript": "ENST00000374193.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000461942.5",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461942.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1116,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944273.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614332.1",
"strand": false,
"transcript": "ENST00000944273.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1107,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865157.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Pro114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535216.1",
"strand": false,
"transcript": "ENST00000865157.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1107,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944266.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Pro114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614325.1",
"strand": false,
"transcript": "ENST00000944266.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865155.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535214.1",
"strand": false,
"transcript": "ENST00000865155.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865161.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535220.1",
"strand": false,
"transcript": "ENST00000865161.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944262.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614321.1",
"strand": false,
"transcript": "ENST00000944262.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944269.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614328.1",
"strand": false,
"transcript": "ENST00000944269.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 367,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1104,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944271.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Pro113Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614330.1",
"strand": false,
"transcript": "ENST00000944271.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1101,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_145241.5",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Pro112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_660284.1",
"strand": false,
"transcript": "NM_145241.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1101,
"cds_start": 334,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000341761.8",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Pro112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345027.3",
"strand": false,
"transcript": "ENST00000341761.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 366,
"aa_ref": "P",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 464,
"cds_end": null,
"cds_length": 1101,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865156.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Pro112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535215.1",
"strand": false,
"transcript": "ENST00000865156.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 366,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1101,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944265.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Pro112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614324.1",
"strand": false,
"transcript": "ENST00000944265.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 342,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1029,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865159.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.262C>T",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535218.1",
"strand": false,
"transcript": "ENST00000865159.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 342,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1029,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865160.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.262C>T",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535219.1",
"strand": false,
"transcript": "ENST00000865160.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1026,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865158.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535217.1",
"strand": false,
"transcript": "ENST00000865158.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 332,
"cds_end": null,
"cds_length": 1026,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000944270.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614329.1",
"strand": false,
"transcript": "ENST00000944270.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 333,
"aa_ref": "P",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 371,
"cds_end": null,
"cds_length": 1002,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944263.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614322.1",
"strand": false,
"transcript": "ENST00000944263.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 332,
"aa_ref": "P",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 335,
"cds_end": null,
"cds_length": 999,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944267.1",
"gene_hgnc_id": 21421,
"gene_symbol": "WDR31",
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614326.1",
"strand": false,
"transcript": "ENST00000944267.1",
"transcript_support_level": null
},
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