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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: 17-75558566-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75558566&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75558566,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031803.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "NM_001031803.2",
"protein_id": "NP_001026973.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1020,
"cds_start": 310,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": "ENST00000392550.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000392550.8",
"protein_id": "ENSP00000376333.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 1020,
"cds_start": 310,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": "NM_001031803.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000577200.5",
"protein_id": "ENSP00000464397.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 1019,
"cds_start": 310,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000167462.9",
"protein_id": "ENSP00000167462.5",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 1015,
"cds_start": 310,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000375227.8",
"protein_id": "ENSP00000364375.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 310,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000578363.5",
"protein_id": "ENSP00000464603.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 310,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "NM_004524.3",
"protein_id": "NP_004515.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1015,
"cds_start": 310,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "NM_001015002.2",
"protein_id": "NP_001015002.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 310,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"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": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Phe",
"transcript": "ENST00000583658.1",
"protein_id": "ENSP00000464483.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 155,
"cds_start": 313,
"cds_end": null,
"cds_length": 468,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"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": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000580578.5",
"protein_id": "ENSP00000464598.1",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 149,
"cds_start": 310,
"cds_end": null,
"cds_length": 452,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"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": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000581713.5",
"protein_id": "ENSP00000463390.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 138,
"cds_start": 310,
"cds_end": null,
"cds_length": 419,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "ENST00000578536.5",
"protein_id": "ENSP00000464451.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 104,
"cds_start": 310,
"cds_end": null,
"cds_length": 316,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_011524802.2",
"protein_id": "XP_011523104.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1024,
"cds_start": 310,
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"cdna_start": 436,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435973.1",
"protein_id": "XP_047291929.1",
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},
{
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"strand": true,
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],
"exon_rank": 6,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435974.1",
"protein_id": "XP_047291930.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1024,
"cds_start": 310,
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"cdna_start": 1145,
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"cdna_length": 4241,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435975.1",
"protein_id": "XP_047291931.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435976.1",
"protein_id": "XP_047291932.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
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"cds_start": 310,
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"cdna_start": 362,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435977.1",
"protein_id": "XP_047291933.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1024,
"cds_start": 310,
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"cdna_start": 395,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "LLGL2",
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"hgvs_c": "c.310G>T",
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"transcript": "XM_047435978.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "LLGL2",
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"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435979.1",
"protein_id": "XP_047291935.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LLGL2",
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"transcript": "XM_047435980.1",
"protein_id": "XP_047291936.1",
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"cds_start": 310,
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"cdna_start": 469,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_017024626.2",
"protein_id": "XP_016880115.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 1020,
"cds_start": 310,
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"cds_length": 3063,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Val104Phe",
"transcript": "XM_047435981.1",
"protein_id": "XP_047291937.1",
"transcript_support_level": null,
"aa_start": 104,
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