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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: 15-49424355-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49424355&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49424355,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000267843.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF7",
"gene_hgnc_id": 3685,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "NM_002009.4",
"protein_id": "NP_002000.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 194,
"cds_start": 58,
"cds_end": null,
"cds_length": 585,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": "ENST00000267843.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF7",
"gene_hgnc_id": 3685,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000267843.9",
"protein_id": "ENSP00000267843.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 194,
"cds_start": 58,
"cds_end": null,
"cds_length": 585,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": "NM_002009.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF7",
"gene_hgnc_id": 3685,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000560270.1",
"protein_id": "ENSP00000454205.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 97,
"cds_start": 58,
"cds_end": null,
"cds_length": 294,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
"hgvs_p": null,
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
"hgvs_p": null,
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.911-1641G>A",
"hgvs_p": null,
"transcript": "ENST00000561064.5",
"protein_id": "ENSP00000453028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.911-1641G>A",
"hgvs_p": null,
"transcript": "NM_001330293.2",
"protein_id": "NP_001317222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FGF7",
"gene_hgnc_id": 3685,
"hgvs_c": "c.-31-86C>T",
"hgvs_p": null,
"transcript": "ENST00000560979.1",
"protein_id": "ENSP00000453980.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
"hgvs_p": null,
"transcript": "XM_005254213.4",
"protein_id": "XP_005254270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
"hgvs_p": null,
"transcript": "XM_005254214.4",
"protein_id": "XP_005254271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
"hgvs_p": null,
"transcript": "XM_006720423.4",
"protein_id": "XP_006720486.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "FAM227B",
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"hgvs_c": "c.1013-52956G>A",
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"transcript": "XM_047432220.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
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"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.977-52956G>A",
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"transcript": "XM_005254215.4",
"protein_id": "XP_005254272.1",
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},
{
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"strand": false,
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],
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"intron_rank": 10,
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"gene_symbol": "FAM227B",
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"hgvs_c": "c.911-52956G>A",
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"transcript": "XM_005254216.4",
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},
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "FAM227B",
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},
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],
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"gene_symbol": "FAM227B",
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"hgvs_c": "c.872-52956G>A",
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"transcript": "XM_047432222.1",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.770-52956G>A",
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"transcript": "XM_017021990.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FAM227B",
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"hgvs_c": "c.764-52956G>A",
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],
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],
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},
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"strand": false,
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],
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"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.1013-52956G>A",
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"transcript": "XM_017021995.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.611-52956G>A",
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"transcript": "XM_011521320.2",
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}
],
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.47,
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{
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],
"verdict": "Uncertain_significance",
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{
"score": 0,
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],
"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}