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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: 9-33798555-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33798555&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33798555,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379405.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Tyr175Cys",
"transcript": "NM_002771.4",
"protein_id": "NP_002762.3",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 247,
"cds_start": 524,
"cds_end": null,
"cds_length": 744,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 808,
"mane_select": "ENST00000379405.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Tyr175Cys",
"transcript": "ENST00000379405.4",
"protein_id": "ENSP00000368715.3",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 247,
"cds_start": 524,
"cds_end": null,
"cds_length": 744,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 808,
"mane_select": "NM_002771.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Tyr187Cys",
"transcript": "ENST00000342836.9",
"protein_id": "ENSP00000340889.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 259,
"cds_start": 560,
"cds_end": null,
"cds_length": 780,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Tyr168Cys",
"transcript": "ENST00000429677.8",
"protein_id": "ENSP00000401828.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 240,
"cds_start": 503,
"cds_end": null,
"cds_length": 723,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Tyr67Cys",
"transcript": "ENST00000361005.10",
"protein_id": "ENSP00000354280.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 139,
"cds_start": 200,
"cds_end": null,
"cds_length": 420,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Tyr189Cys",
"transcript": "NM_001197097.3",
"protein_id": "NP_001184026.3",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 261,
"cds_start": 566,
"cds_end": null,
"cds_length": 786,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Tyr168Cys",
"transcript": "NM_001197098.1",
"protein_id": "NP_001184027.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 240,
"cds_start": 503,
"cds_end": null,
"cds_length": 723,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Tyr67Cys",
"transcript": "NM_007343.4",
"protein_id": "NP_031369.3",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 139,
"cds_start": 200,
"cds_end": null,
"cds_length": 420,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Tyr175Cys",
"transcript": "XM_047423602.1",
"protein_id": "XP_047279558.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 247,
"cds_start": 524,
"cds_end": null,
"cds_length": 744,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Tyr67Cys",
"transcript": "XM_011517965.2",
"protein_id": "XP_011516267.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 139,
"cds_start": 200,
"cds_end": null,
"cds_length": 420,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.299T>C",
"hgvs_p": null,
"transcript": "ENST00000454429.2",
"protein_id": null,
"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": 647,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS3",
"gene_hgnc_id": 9486,
"hgvs_c": "n.38A>G",
"hgvs_p": null,
"transcript": "ENST00000495682.1",
"protein_id": null,
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.1298T>C",
"hgvs_p": null,
"transcript": "ENST00000668091.1",
"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": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.1403T>C",
"hgvs_p": null,
"transcript": "ENST00000669609.1",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.238T>C",
"hgvs_p": null,
"transcript": "ENST00000705030.1",
"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": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.340T>C",
"hgvs_p": null,
"transcript": "ENST00000723661.1",
"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": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170203.1",
"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": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170205.1",
"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": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170206.1",
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170209.1",
"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": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170210.1",
"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": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
"hgvs_p": null,
"transcript": "NR_170211.1",
"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": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2R2-AS1",
"gene_hgnc_id": 49911,
"hgvs_c": "n.372T>C",
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],
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000379405.4",
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{
"score": 6,
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],
"verdict": "Likely_pathogenic",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}