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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: 2-178306204-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178306204&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178306204,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032523.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "NM_032523.4",
"protein_id": "NP_115912.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 934,
"cds_start": 20,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "ENST00000190611.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000190611.9",
"protein_id": "ENSP00000190611.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 934,
"cds_start": 20,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "NM_032523.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000392505.6",
"protein_id": "ENSP00000376293.2",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 959,
"cds_start": 20,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000409631.5",
"protein_id": "ENSP00000386885.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 898,
"cds_start": 20,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000357080.8",
"protein_id": "ENSP00000349591.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 508,
"cds_start": 20,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "NM_001201480.2",
"protein_id": "NP_001188409.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 959,
"cds_start": 20,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "NM_001201481.2",
"protein_id": "NP_001188410.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 903,
"cds_start": 20,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000409045.7",
"protein_id": "ENSP00000387248.3",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 903,
"cds_start": 20,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "NM_001201482.2",
"protein_id": "NP_001188411.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 898,
"cds_start": 20,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "ENST00000359685.7",
"protein_id": "ENSP00000352713.3",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 898,
"cds_start": 20,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.10G>T",
"hgvs_p": "p.Ala4Ser",
"transcript": "XM_017003265.3",
"protein_id": "XP_016858754.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 981,
"cds_start": 10,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 10803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.10G>T",
"hgvs_p": "p.Ala4Ser",
"transcript": "XM_047443123.1",
"protein_id": "XP_047299079.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 981,
"cds_start": 10,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 10974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_017003266.2",
"protein_id": "XP_016858755.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 959,
"cds_start": 20,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_017003267.3",
"protein_id": "XP_016858756.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443124.1",
"protein_id": "XP_047299080.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 959,
"cds_start": 20,
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"cdna_start": 617,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.10G>T",
"hgvs_p": "p.Ala4Ser",
"transcript": "XM_047443125.1",
"protein_id": "XP_047299081.1",
"transcript_support_level": null,
"aa_start": 4,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443126.1",
"protein_id": "XP_047299082.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 934,
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"cdna_start": 621,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443127.1",
"protein_id": "XP_047299083.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 934,
"cds_start": 20,
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"cdna_start": 617,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443129.1",
"protein_id": "XP_047299085.1",
"transcript_support_level": null,
"aa_start": 7,
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},
{
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"aa_alt": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443130.1",
"protein_id": "XP_047299086.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
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"cds_start": 20,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443131.1",
"protein_id": "XP_047299087.1",
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"aa_start": 7,
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"cds_start": 20,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_047443132.1",
"protein_id": "XP_047299088.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 934,
"cds_start": 20,
"cds_end": null,
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"cdna_start": 578,
"cdna_end": null,
"cdna_length": 10697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Gly7Val",
"transcript": "XM_011510539.3",
"protein_id": "XP_011508841.1",
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],
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{
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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
}