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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: 1-53266502-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53266502&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53266502,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000306052.12",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "NM_004631.5",
"protein_id": "NP_004622.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 963,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "ENST00000306052.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "ENST00000306052.12",
"protein_id": "ENSP00000303634.6",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 963,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "NM_004631.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "ENST00000371454.6",
"protein_id": "ENSP00000360509.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 904,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Trp296Cys",
"transcript": "ENST00000347547.7",
"protein_id": "ENSP00000334522.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 793,
"cds_start": 888,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1011G>C",
"hgvs_p": "p.Trp337Cys",
"transcript": "ENST00000354412.7",
"protein_id": "ENSP00000346391.3",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 700,
"cds_start": 1011,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "ENST00000667377.1",
"protein_id": "ENSP00000499405.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 926,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "NM_001018054.3",
"protein_id": "NP_001018064.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 904,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "ENST00000659993.1",
"protein_id": "ENSP00000499697.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 888,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1398G>C",
"hgvs_p": "p.Trp466Cys",
"transcript": "ENST00000668448.1",
"protein_id": "ENSP00000499273.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 888,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Trp344Cys",
"transcript": "ENST00000465675.6",
"protein_id": "ENSP00000437009.2",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 841,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1011G>C",
"hgvs_p": "p.Trp337Cys",
"transcript": "ENST00000662198.1",
"protein_id": "ENSP00000499355.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 834,
"cds_start": 1011,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.933G>C",
"hgvs_p": "p.Trp311Cys",
"transcript": "ENST00000653217.1",
"protein_id": "ENSP00000499777.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 808,
"cds_start": 933,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.888G>C",
"hgvs_p": "p.Trp296Cys",
"transcript": "NM_033300.4",
"protein_id": "NP_150643.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 793,
"cds_start": 888,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.885G>C",
"hgvs_p": "p.Trp295Cys",
"transcript": "ENST00000657895.1",
"protein_id": "ENSP00000499764.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 790,
"cds_start": 885,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.981G>C",
"hgvs_p": "p.Trp327Cys",
"transcript": "ENST00000668071.1",
"protein_id": "ENSP00000499744.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 765,
"cds_start": 981,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.882G>C",
"hgvs_p": "p.Trp294Cys",
"transcript": "ENST00000662604.1",
"protein_id": "ENSP00000499486.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 732,
"cds_start": 882,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Trp211Cys",
"transcript": "ENST00000658277.1",
"protein_id": "ENSP00000499550.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 708,
"cds_start": 633,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1011G>C",
"hgvs_p": "p.Trp337Cys",
"transcript": "NM_017522.5",
"protein_id": "NP_059992.3",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 700,
"cds_start": 1011,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.528G>C",
"hgvs_p": "p.Trp176Cys",
"transcript": "ENST00000656486.1",
"protein_id": "ENSP00000499708.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 673,
"cds_start": 528,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.171G>C",
"hgvs_p": "p.Trp57Cys",
"transcript": "ENST00000653169.1",
"protein_id": "ENSP00000499783.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 233,
"cds_start": 171,
"cds_end": null,
"cds_length": 702,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.261G>C",
"hgvs_p": "p.Trp87Cys",
"transcript": "ENST00000475501.2",
"protein_id": "ENSP00000436651.2",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 156,
"cds_start": 261,
"cds_end": null,
"cds_length": 471,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.2097G>C",
"hgvs_p": null,
"transcript": "ENST00000459674.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
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{
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}
],
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}