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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: 20-43532088-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=43532088&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 43532088,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000418998.7",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "n.1117C>T",
"hgvs_p": null,
"transcript": "ENST00000373133.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3285,
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1285-685C>T",
"hgvs_p": null,
"transcript": "NM_001377303.1",
"protein_id": "NP_001364232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": "ENST00000418998.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1285-685C>T",
"hgvs_p": null,
"transcript": "ENST00000418998.7",
"protein_id": "ENSP00000398516.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": "NM_001377303.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288000",
"gene_hgnc_id": null,
"hgvs_c": "c.1966-685C>T",
"hgvs_p": null,
"transcript": "ENST00000657241.1",
"protein_id": "ENSP00000499734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": -4,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4024,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "ENST00000373135.8",
"protein_id": "ENSP00000362227.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2404,
"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": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "ENST00000373134.5",
"protein_id": "ENSP00000362226.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2532,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "n.2389C>T",
"hgvs_p": null,
"transcript": "ENST00000497347.6",
"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": 4700,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "n.2665C>T",
"hgvs_p": null,
"transcript": "ENST00000648715.1",
"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": 7254,
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1285-685C>T",
"hgvs_p": null,
"transcript": "ENST00000704961.1",
"protein_id": "ENSP00000516063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": -4,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5314,
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1219-685C>T",
"hgvs_p": null,
"transcript": "NM_032107.5",
"protein_id": "NP_115479.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3349,
"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": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1219-685C>T",
"hgvs_p": null,
"transcript": "ENST00000427442.8",
"protein_id": "ENSP00000402107.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
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"cds_length": 2523,
"cdna_start": null,
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"cdna_length": 3044,
"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": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1285-685C>T",
"hgvs_p": null,
"transcript": "NM_001377306.1",
"protein_id": "NP_001364235.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 2466,
"cdna_start": null,
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"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1285-685C>T",
"hgvs_p": null,
"transcript": "ENST00000649917.1",
"protein_id": "ENSP00000497566.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "NM_015478.7",
"protein_id": "NP_056293.4",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "NM_001377307.1",
"protein_id": "NP_001364236.1",
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "NM_001377308.1",
"protein_id": "NP_001364237.1",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
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"transcript": "ENST00000422861.3",
"protein_id": "ENSP00000410139.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "NM_001377309.1",
"protein_id": "NP_001364238.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.1015-685C>T",
"hgvs_p": null,
"transcript": "NM_001377310.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "L3MBTL1",
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"hgvs_c": "c.895-685C>T",
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"transcript": "NM_001377311.1",
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},
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],
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.895-685C>T",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "c.292-685C>T",
"hgvs_p": null,
"transcript": "ENST00000649084.1",
"protein_id": "ENSP00000497122.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 497,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "L3MBTL1",
"gene_hgnc_id": 15905,
"hgvs_c": "n.*425-685C>T",
"hgvs_p": null,
"transcript": "ENST00000439769.2",
"protein_id": "ENSP00000387971.2",
"transcript_support_level": 4,
"aa_start": null,
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