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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: 18-46521279-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46521279&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46521279,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000642948.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5089G>A",
"hgvs_p": "p.Gly1697Ser",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5089,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5089G>A",
"hgvs_p": "p.Gly1697Ser",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5089,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Gly586Ser",
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Gly490Ser",
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4471G>A",
"hgvs_p": "p.Gly1491Ser",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 1491,
"aa_end": null,
"aa_length": 2067,
"cds_start": 4471,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4471,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Gly586Ser",
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Gly490Ser",
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Gly1349Ser",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1925,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4255G>A",
"hgvs_p": "p.Gly1419Ser",
"transcript": "XM_047437290.1",
"protein_id": "XP_047293246.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4255,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4255G>A",
"hgvs_p": "p.Gly1419Ser",
"transcript": "XM_047437291.1",
"protein_id": "XP_047293247.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1765,
"cds_start": 4255,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 7090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4255G>A",
"hgvs_p": "p.Gly1419Ser",
"transcript": "XM_047437292.1",
"protein_id": "XP_047293248.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4255,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3250G>A",
"hgvs_p": "p.Gly1084Ser",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3250,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4255G>A",
"hgvs_p": "p.Gly1419Ser",
"transcript": "XM_047437293.1",
"protein_id": "XP_047293249.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4402,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1888G>A",
"hgvs_p": "p.Gly630Ser",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1888,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Gly585Ser",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1753,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Gly490Ser",
"transcript": "XM_024451086.2",
"protein_id": "XP_024306854.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Gly490Ser",
"transcript": "XM_024451088.2",
"protein_id": "XP_024306856.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5085+822G>A",
"hgvs_p": null,
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2211,
"cds_start": -4,
"cds_end": null,
"cds_length": 6636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5085+822G>A",
"hgvs_p": null,
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2211,
"cds_start": -4,
"cds_end": null,
"cds_length": 6636,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1752+822G>A",
"hgvs_p": null,
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "n.4398+822G>A",
"hgvs_p": null,
"transcript": "ENST00000335730.6",
"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": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1884+822G>A",
"hgvs_p": null,
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": -4,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.-943G>A",
"hgvs_p": null,
"transcript": "XM_011525810.3",
"protein_id": "XP_011524112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"dbsnp": "rs876657853",
"frequency_reference_population": 0.000005800651,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000500222,
"gnomad_genomes_af": 0.0000131432,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.791258692741394,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.504,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642948.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5089G>A",
"hgvs_p": "p.Gly1697Ser"
}
],
"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
}