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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: 19-5831829-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5831829&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5831829,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000318336.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_000150.4",
"protein_id": "NP_000141.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": "ENST00000318336.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000318336.10",
"protein_id": "ENSP00000313398.4",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": "NM_000150.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000592563.1",
"protein_id": "ENSP00000466016.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 364,
"cds_start": 739,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000286955.5",
"protein_id": "ENSP00000286955.5",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000527106.5",
"protein_id": "ENSP00000432954.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001040701.2",
"protein_id": "NP_001035791.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001369502.1",
"protein_id": "NP_001356431.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001369504.1",
"protein_id": "NP_001356433.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001369505.1",
"protein_id": "NP_001356434.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001381955.1",
"protein_id": "NP_001368884.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001381956.1",
"protein_id": "NP_001368885.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "ENST00000524754.1",
"protein_id": "ENSP00000431708.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001381957.1",
"protein_id": "NP_001368886.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 357,
"cds_start": 739,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001381958.1",
"protein_id": "NP_001368887.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
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"cds_start": 739,
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"cdna_start": 1293,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "NM_001381959.1",
"protein_id": "NP_001368888.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 357,
"cds_start": 739,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438553.1",
"protein_id": "XP_047294509.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
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"cds_start": 739,
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"cdna_start": 2085,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438554.1",
"protein_id": "XP_047294510.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438555.1",
"protein_id": "XP_047294511.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438556.1",
"protein_id": "XP_047294512.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
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"cdna_start": 2022,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438557.1",
"protein_id": "XP_047294513.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
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"cds_length": 1080,
"cdna_start": 2019,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438558.1",
"protein_id": "XP_047294514.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
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"cds_length": 1080,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438559.1",
"protein_id": "XP_047294515.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 359,
"cds_start": 739,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438560.1",
"protein_id": "XP_047294516.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 357,
"cds_start": 739,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys",
"transcript": "XM_047438561.1",
"protein_id": "XP_047294517.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 357,
"cds_start": 739,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUT6",
"gene_hgnc_id": 4017,
"dbsnp": "rs17855739",
"frequency_reference_population": 0.0621038,
"hom_count_reference_population": 5872,
"allele_count_reference_population": 100202,
"gnomad_exomes_af": 0.0563721,
"gnomad_genomes_af": 0.117288,
"gnomad_exomes_ac": 82396,
"gnomad_genomes_ac": 17806,
"gnomad_exomes_homalt": 3983,
"gnomad_genomes_homalt": 1889,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004096925258636475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.49,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9293,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.275,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000318336.10",
"gene_symbol": "FUT6",
"hgnc_id": 4017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Glu247Lys"
}
],
"clinvar_disease": "Fucosyltransferase 6 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Fucosyltransferase 6 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}