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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: 18-46483699-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46483699&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46483699,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000642948.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6229A>G",
"hgvs_p": "p.Ile2077Val",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2273,
"cds_start": 6229,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 6416,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6229A>G",
"hgvs_p": "p.Ile2077Val",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2273,
"cds_start": 6229,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 6416,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2896A>G",
"hgvs_p": "p.Ile966Val",
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2896,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2608A>G",
"hgvs_p": "p.Ile870Val",
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": 870,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2608,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000398686.8",
"protein_id": "ENSP00000381676.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 512,
"cds_start": 946,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6043A>G",
"hgvs_p": "p.Ile2015Val",
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": 2015,
"aa_end": null,
"aa_length": 2211,
"cds_start": 6043,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 6230,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6043A>G",
"hgvs_p": "p.Ile2015Val",
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": 2015,
"aa_end": null,
"aa_length": 2211,
"cds_start": 6043,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 6043,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5611A>G",
"hgvs_p": "p.Ile1871Val",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2067,
"cds_start": 5611,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 5611,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2896A>G",
"hgvs_p": "p.Ile966Val",
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2896,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2710A>G",
"hgvs_p": "p.Ile904Val",
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": 904,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2710,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2608A>G",
"hgvs_p": "p.Ile870Val",
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2608,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_001145473.3",
"protein_id": "NP_001138945.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 512,
"cds_start": 946,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "NM_001173129.2",
"protein_id": "NP_001166600.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 457,
"cds_start": 946,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000398705.7",
"protein_id": "ENSP00000381692.2",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 457,
"cds_start": 946,
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"cdna_start": 1157,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5185A>G",
"hgvs_p": "p.Ile1729Val",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5185,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 5284,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4390A>G",
"hgvs_p": "p.Ile1464Val",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 1464,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4390,
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"cdna_start": 4459,
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"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3028A>G",
"hgvs_p": "p.Ile1010Val",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3028,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2893A>G",
"hgvs_p": "p.Ile965Val",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2842A>G",
"hgvs_p": "p.Ile948Val",
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2842,
"cds_end": null,
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"cdna_start": 2970,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2608A>G",
"hgvs_p": "p.Ile870Val",
"transcript": "XM_024451086.2",
"protein_id": "XP_024306854.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2608,
"cds_end": null,
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"cdna_start": 2959,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2608A>G",
"hgvs_p": "p.Ile870Val",
"transcript": "XM_024451088.2",
"protein_id": "XP_024306856.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2608,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.997A>G",
"hgvs_p": "p.Ile333Val",
"transcript": "XM_011525810.3",
"protein_id": "XP_011524112.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 529,
"cds_start": 997,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"feature": null
}
],
"gene_symbol": "LOXHD1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16530108451843262,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.1122,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.807,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642948.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6229A>G",
"hgvs_p": "p.Ile2077Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}