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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: 18-46477553-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46477553&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46477553,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001384474.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6741C>T",
"hgvs_p": "p.Ala2247Ala",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 2247,
"aa_end": null,
"aa_length": 2273,
"cds_start": 6741,
"cds_end": null,
"cds_length": 6822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384474.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6741C>T",
"hgvs_p": "p.Ala2247Ala",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 2247,
"aa_end": null,
"aa_length": 2273,
"cds_start": 6741,
"cds_end": null,
"cds_length": 6822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642948.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Ala486Ala",
"transcript": "ENST00000398686.8",
"protein_id": "ENSP00000381676.4",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 512,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398686.8"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3307+101C>T",
"hgvs_p": null,
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300591.11"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3033+87C>T",
"hgvs_p": null,
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579038.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6555C>T",
"hgvs_p": "p.Ala2185Ala",
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": 2185,
"aa_end": null,
"aa_length": 2211,
"cds_start": 6555,
"cds_end": null,
"cds_length": 6636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144612.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6555C>T",
"hgvs_p": "p.Ala2185Ala",
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": 2185,
"aa_end": null,
"aa_length": 2211,
"cds_start": 6555,
"cds_end": null,
"cds_length": 6636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536736.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.6123C>T",
"hgvs_p": "p.Ala2041Ala",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2067,
"cds_start": 6123,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441551.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3222C>T",
"hgvs_p": "p.Ala1074Ala",
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1100,
"cds_start": 3222,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582408.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Ala486Ala",
"transcript": "NM_001145473.3",
"protein_id": "NP_001138945.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 512,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145473.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5697C>T",
"hgvs_p": "p.Ala1899Ala",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1899,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5697,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437289.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4902C>T",
"hgvs_p": "p.Ala1634Ala",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4902,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525804.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3540C>T",
"hgvs_p": "p.Ala1180Ala",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3540,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722388.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3405C>T",
"hgvs_p": "p.Ala1135Ala",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451085.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3354C>T",
"hgvs_p": "p.Ala1118Ala",
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722391.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3120C>T",
"hgvs_p": "p.Ala1040Ala",
"transcript": "XM_024451086.2",
"protein_id": "XP_024306854.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3120,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451086.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3120C>T",
"hgvs_p": "p.Ala1040Ala",
"transcript": "XM_024451088.2",
"protein_id": "XP_024306856.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3120,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451088.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.Ala503Ala",
"transcript": "XM_011525810.3",
"protein_id": "XP_011524112.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 529,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525810.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Ala486Ala",
"transcript": "XM_011525811.3",
"protein_id": "XP_011524113.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 512,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525811.3"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3307+101C>T",
"hgvs_p": null,
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145472.3"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3033+87C>T",
"hgvs_p": null,
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308013.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1371+87C>T",
"hgvs_p": null,
"transcript": "NM_001173129.2",
"protein_id": "NP_001166600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173129.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1371+87C>T",
"hgvs_p": null,
"transcript": "ENST00000398705.7",
"protein_id": "ENSP00000381692.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398705.7"
}
],
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"dbsnp": "rs189873733",
"frequency_reference_population": 0.003810221,
"hom_count_reference_population": 18,
"allele_count_reference_population": 5912,
"gnomad_exomes_af": 0.00389274,
"gnomad_genomes_af": 0.00305226,
"gnomad_exomes_ac": 5447,
"gnomad_genomes_ac": 465,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.17000000178813934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.055,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001384474.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6741C>T",
"hgvs_p": "p.Ala2247Ala"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 77,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:3",
"phenotype_combined": "not specified|not provided|Autosomal recessive nonsyndromic hearing loss 77",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}