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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: 12-896478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=896478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 896478,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001184985.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6747G>A",
"hgvs_p": "p.Glu2249Glu",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 2249,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6747,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": "protein_coding",
"feature": "NM_213655.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6747G>A",
"hgvs_p": "p.Glu2249Glu",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 2249,
"aa_end": null,
"aa_length": 2634,
"cds_start": 6747,
"cds_end": null,
"cds_length": 7905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": "protein_coding",
"feature": "ENST00000340908.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5991G>A",
"hgvs_p": "p.Glu1997Glu",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5991,
"cds_end": null,
"cds_length": 7149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018979.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5991G>A",
"hgvs_p": "p.Glu1997Glu",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2382,
"cds_start": 5991,
"cds_end": null,
"cds_length": 7149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315939.11"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7230G>A",
"hgvs_p": "p.Glu2410Glu",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2410,
"aa_end": null,
"aa_length": 2833,
"cds_start": 7230,
"cds_end": null,
"cds_length": 8502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530271.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5247G>A",
"hgvs_p": "p.Glu1749Glu",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1749,
"aa_end": null,
"aa_length": 2134,
"cds_start": 5247,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535572.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6771G>A",
"hgvs_p": "p.Glu2257Glu",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 2257,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6771,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184985.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6771G>A",
"hgvs_p": "p.Glu2257Glu",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 2257,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6771,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537687.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5988G>A",
"hgvs_p": "p.Glu1996Glu",
"transcript": "ENST00000899151.1",
"protein_id": "ENSP00000569210.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2381,
"cds_start": 5988,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899151.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5907G>A",
"hgvs_p": "p.Glu1969Glu",
"transcript": "ENST00000928791.1",
"protein_id": "ENSP00000598850.1",
"transcript_support_level": null,
"aa_start": 1969,
"aa_end": null,
"aa_length": 2354,
"cds_start": 5907,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928791.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5529G>A",
"hgvs_p": "p.Glu1843Glu",
"transcript": "ENST00000899157.1",
"protein_id": "ENSP00000569216.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 2228,
"cds_start": 5529,
"cds_end": null,
"cds_length": 6687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899157.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5253G>A",
"hgvs_p": "p.Glu1751Glu",
"transcript": "ENST00000899150.1",
"protein_id": "ENSP00000569209.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 2136,
"cds_start": 5253,
"cds_end": null,
"cds_length": 6411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899150.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5250G>A",
"hgvs_p": "p.Glu1750Glu",
"transcript": "ENST00000899152.1",
"protein_id": "ENSP00000569211.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5250,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899152.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5250G>A",
"hgvs_p": "p.Glu1750Glu",
"transcript": "ENST00000899156.1",
"protein_id": "ENSP00000569215.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 2135,
"cds_start": 5250,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899156.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5247G>A",
"hgvs_p": "p.Glu1749Glu",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 2134,
"cds_start": 5247,
"cds_end": null,
"cds_length": 6405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014823.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5166G>A",
"hgvs_p": "p.Glu1722Glu",
"transcript": "ENST00000899153.1",
"protein_id": "ENSP00000569212.1",
"transcript_support_level": null,
"aa_start": 1722,
"aa_end": null,
"aa_length": 2107,
"cds_start": 5166,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899153.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5166G>A",
"hgvs_p": "p.Glu1722Glu",
"transcript": "ENST00000899154.1",
"protein_id": "ENSP00000569213.1",
"transcript_support_level": null,
"aa_start": 1722,
"aa_end": null,
"aa_length": 2107,
"cds_start": 5166,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899154.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5163G>A",
"hgvs_p": "p.Glu1721Glu",
"transcript": "ENST00000899155.1",
"protein_id": "ENSP00000569214.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 2106,
"cds_start": 5163,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899155.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4770G>A",
"hgvs_p": "p.Glu1590Glu",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1975,
"cds_start": 4770,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675631.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3438G>A",
"hgvs_p": "p.Glu1146Glu",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676347.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7230G>A",
"hgvs_p": "p.Glu2410Glu",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2410,
"aa_end": null,
"aa_length": 2795,
"cds_start": 7230,
"cds_end": null,
"cds_length": 8388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520997.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.7227G>A",
"hgvs_p": "p.Glu2409Glu",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 2409,
"aa_end": null,
"aa_length": 2794,
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"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "n.-145G>A",
"hgvs_p": null,
"transcript": "ENST00000542424.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000542424.1"
}
],
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"dbsnp": "rs61736907",
"frequency_reference_population": 0.0014598215,
"hom_count_reference_population": 34,
"allele_count_reference_population": 2356,
"gnomad_exomes_af": 0.000828377,
"gnomad_genomes_af": 0.0075328,
"gnomad_exomes_ac": 1211,
"gnomad_genomes_ac": 1145,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.164,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001184985.2",
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6771G>A",
"hgvs_p": "p.Glu2257Glu"
}
],
"clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Pseudohypoaldosteronism type 2C|Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}