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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: 7-151385186-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151385186&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151385186,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198285.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "NM_198285.3",
"protein_id": "NP_938026.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 376,
"cds_start": 764,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": "ENST00000334493.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "ENST00000334493.11",
"protein_id": "ENSP00000335522.7",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 376,
"cds_start": 764,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": "NM_198285.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Gln276His",
"transcript": "NM_001284260.2",
"protein_id": "NP_001271189.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 482,
"cds_start": 828,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Gln276His",
"transcript": "ENST00000469830.2",
"protein_id": "ENSP00000419162.2",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 482,
"cds_start": 828,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Thr",
"transcript": "NM_001284262.2",
"protein_id": "NP_001271191.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 248,
"cds_start": 380,
"cds_end": null,
"cds_length": 747,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Thr",
"transcript": "ENST00000621812.2",
"protein_id": "ENSP00000482209.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 248,
"cds_start": 380,
"cds_end": null,
"cds_length": 747,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Gln276His",
"transcript": "XM_011516144.4",
"protein_id": "XP_011514446.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 468,
"cds_start": 828,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Gln276His",
"transcript": "XM_011516145.4",
"protein_id": "XP_011514447.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 425,
"cds_start": 828,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "XM_011516146.4",
"protein_id": "XP_011514448.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 370,
"cds_start": 764,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.444G>C",
"hgvs_p": "p.Gln148His",
"transcript": "XM_011516148.2",
"protein_id": "XP_011514450.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 354,
"cds_start": 444,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.444G>C",
"hgvs_p": "p.Gln148His",
"transcript": "XM_011516150.2",
"protein_id": "XP_011514452.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 354,
"cds_start": 444,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "XM_005249990.6",
"protein_id": "XP_005250047.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 327,
"cds_start": 764,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr",
"transcript": "XM_006715966.4",
"protein_id": "XP_006716029.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 327,
"cds_start": 764,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1213,
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"cdna_length": 3968,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Gln276His",
"transcript": "XM_011516152.3",
"protein_id": "XP_011514454.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.343-3205G>C",
"hgvs_p": null,
"transcript": "NM_001284261.2",
"protein_id": "NP_001271190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.343-3205G>C",
"hgvs_p": null,
"transcript": "ENST00000477459.5",
"protein_id": "ENSP00000417512.1",
"transcript_support_level": 2,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.343-3205G>C",
"hgvs_p": null,
"transcript": "ENST00000628331.1",
"protein_id": "ENSP00000486705.1",
"transcript_support_level": 5,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "n.143-8039G>C",
"hgvs_p": null,
"transcript": "ENST00000463000.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "WDR86",
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"hgvs_c": "c.727-3205G>C",
"hgvs_p": null,
"transcript": "XM_005249989.5",
"protein_id": "XP_005250046.1",
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},
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "WDR86",
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"hgvs_c": "c.727-3205G>C",
"hgvs_p": null,
"transcript": "XM_011516147.4",
"protein_id": "XP_011514449.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "WDR86",
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"hgvs_c": "c.727-3205G>C",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.343-3205G>C",
"hgvs_p": null,
"transcript": "XM_047420327.1",
"protein_id": "XP_047276283.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.343-3205G>C",
"hgvs_p": null,
"transcript": "XM_047420328.1",
"protein_id": "XP_047276284.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"hgvs_c": "c.*6414G>C",
"hgvs_p": null,
"transcript": "XM_047420326.1",
"protein_id": "XP_047276282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR86",
"gene_hgnc_id": 28020,
"dbsnp": "rs747834884",
"frequency_reference_population": 0.000005580267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410794,
"gnomad_genomes_af": 0.0000197057,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22558167576789856,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.362,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.19,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.731,
"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": 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": "NM_198285.3",
"gene_symbol": "WDR86",
"hgnc_id": 28020,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Thr"
}
],
"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
}