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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: 1-53250744-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53250744&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53250744,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000306052.12",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Asp874Glu",
"transcript": "NM_004631.5",
"protein_id": "NP_004622.2",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 963,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "ENST00000306052.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Asp874Glu",
"transcript": "ENST00000306052.12",
"protein_id": "ENSP00000303634.6",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 963,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "NM_004631.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Asp874Glu",
"transcript": "ENST00000371454.6",
"protein_id": "ENSP00000360509.2",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 904,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Asp704Glu",
"transcript": "ENST00000347547.7",
"protein_id": "ENSP00000334522.2",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 793,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2010C>A",
"hgvs_p": "p.Asp670Glu",
"transcript": "ENST00000354412.7",
"protein_id": "ENSP00000346391.3",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 700,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Asp874Glu",
"transcript": "ENST00000667377.1",
"protein_id": "ENSP00000499405.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 926,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2767,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Asp874Glu",
"transcript": "NM_001018054.3",
"protein_id": "NP_001018064.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 904,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2397C>A",
"hgvs_p": "p.Asp799Glu",
"transcript": "ENST00000668448.1",
"protein_id": "ENSP00000499273.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 888,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2256C>A",
"hgvs_p": "p.Asp752Glu",
"transcript": "ENST00000465675.6",
"protein_id": "ENSP00000437009.2",
"transcript_support_level": 2,
"aa_start": 752,
"aa_end": null,
"aa_length": 841,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2235C>A",
"hgvs_p": "p.Asp745Glu",
"transcript": "ENST00000662198.1",
"protein_id": "ENSP00000499355.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 834,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2792,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2157C>A",
"hgvs_p": "p.Asp719Glu",
"transcript": "ENST00000653217.1",
"protein_id": "ENSP00000499777.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 808,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Asp704Glu",
"transcript": "NM_033300.4",
"protein_id": "NP_150643.2",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 793,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2103C>A",
"hgvs_p": "p.Asp701Glu",
"transcript": "ENST00000657895.1",
"protein_id": "ENSP00000499764.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 790,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2205C>A",
"hgvs_p": "p.Asp735Glu",
"transcript": "ENST00000668071.1",
"protein_id": "ENSP00000499744.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 765,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Asp702Glu",
"transcript": "ENST00000662604.1",
"protein_id": "ENSP00000499486.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 732,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1857C>A",
"hgvs_p": "p.Asp619Glu",
"transcript": "ENST00000658277.1",
"protein_id": "ENSP00000499550.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 708,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2010C>A",
"hgvs_p": "p.Asp670Glu",
"transcript": "NM_017522.5",
"protein_id": "NP_059992.3",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 700,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1752C>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000656486.1",
"protein_id": "ENSP00000499708.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 673,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asp80Glu",
"transcript": "ENST00000654947.1",
"protein_id": "ENSP00000499442.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 124,
"cds_start": 240,
"cds_end": null,
"cds_length": 375,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 702,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.*787C>A",
"hgvs_p": null,
"transcript": "ENST00000480045.6",
"protein_id": "ENSP00000433554.2",
"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": 4448,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.336C>A",
"hgvs_p": null,
"transcript": "ENST00000529670.6",
"protein_id": "ENSP00000431241.2",
"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": 959,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.1518C>A",
"hgvs_p": null,
"transcript": "ENST00000653810.1",
"protein_id": "ENSP00000499410.1",
"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": 2112,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "n.2082C>A",
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}