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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: 3-171084296-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=171084296&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 171084296,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015028.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3028G>C",
"hgvs_p": "p.Glu1010Gln",
"transcript": "NM_015028.4",
"protein_id": "NP_055843.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3028,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436636.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015028.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3028G>C",
"hgvs_p": "p.Glu1010Gln",
"transcript": "ENST00000436636.7",
"protein_id": "ENSP00000399511.2",
"transcript_support_level": 1,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3028,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015028.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436636.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3004G>C",
"hgvs_p": "p.Glu1002Gln",
"transcript": "ENST00000284483.12",
"protein_id": "ENSP00000284483.8",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3004,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284483.12"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2941G>C",
"hgvs_p": "p.Glu981Gln",
"transcript": "ENST00000357327.9",
"protein_id": "ENSP00000349880.5",
"transcript_support_level": 1,
"aa_start": 981,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2941,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357327.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Glu973Gln",
"transcript": "ENST00000470834.5",
"protein_id": "ENSP00000419990.1",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470834.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Glu955Gln",
"transcript": "ENST00000488470.5",
"protein_id": "ENSP00000418378.1",
"transcript_support_level": 1,
"aa_start": 955,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2863,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488470.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Glu947Gln",
"transcript": "ENST00000460047.5",
"protein_id": "ENSP00000418916.1",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 1297,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460047.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2776G>C",
"hgvs_p": "p.Glu926Gln",
"transcript": "ENST00000341852.10",
"protein_id": "ENSP00000345352.6",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1276,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341852.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2752G>C",
"hgvs_p": "p.Glu918Gln",
"transcript": "ENST00000475336.5",
"protein_id": "ENSP00000418156.1",
"transcript_support_level": 1,
"aa_start": 918,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475336.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "n.1061G>C",
"hgvs_p": null,
"transcript": "ENST00000496492.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000496492.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3076G>C",
"hgvs_p": "p.Glu1026Gln",
"transcript": "ENST00000948115.1",
"protein_id": "ENSP00000618174.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3076,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948115.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.3004G>C",
"hgvs_p": "p.Glu1002Gln",
"transcript": "NM_001161560.3",
"protein_id": "NP_001155032.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3004,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161560.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2941G>C",
"hgvs_p": "p.Glu981Gln",
"transcript": "NM_001161561.3",
"protein_id": "NP_001155033.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2941,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161561.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Glu973Gln",
"transcript": "NM_001161562.3",
"protein_id": "NP_001155034.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161562.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2863G>C",
"hgvs_p": "p.Glu955Gln",
"transcript": "NM_001161563.3",
"protein_id": "NP_001155035.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2863,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161563.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2839G>C",
"hgvs_p": "p.Glu947Gln",
"transcript": "NM_001161564.3",
"protein_id": "NP_001155036.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1297,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161564.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2776G>C",
"hgvs_p": "p.Glu926Gln",
"transcript": "NM_001161565.3",
"protein_id": "NP_001155037.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1276,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161565.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2752G>C",
"hgvs_p": "p.Glu918Gln",
"transcript": "NM_001161566.3",
"protein_id": "NP_001155038.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161566.3"
},
{
"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": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"hgvs_c": "c.2911+822G>C",
"hgvs_p": null,
"transcript": "ENST00000928917.1",
"protein_id": "ENSP00000598976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": null,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286856",
"gene_hgnc_id": null,
"hgvs_c": "n.310-23542C>G",
"hgvs_p": null,
"transcript": "ENST00000834079.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000834079.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286856",
"gene_hgnc_id": null,
"hgvs_c": "n.477-29804C>G",
"hgvs_p": null,
"transcript": "ENST00000834080.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000834080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286856",
"gene_hgnc_id": null,
"hgvs_c": "n.487-23542C>G",
"hgvs_p": null,
"transcript": "ENST00000834081.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000834081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286856",
"gene_hgnc_id": null,
"hgvs_c": "n.485-23542C>G",
"hgvs_p": null,
"transcript": "ENST00000834082.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000834082.1"
}
],
"gene_symbol": "TNIK",
"gene_hgnc_id": 30765,
"dbsnp": "rs781578994",
"frequency_reference_population": 0.0000020526995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020527,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39793339371681213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.438,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.433,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.504,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015028.4",
"gene_symbol": "TNIK",
"hgnc_id": 30765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3028G>C",
"hgvs_p": "p.Glu1010Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834079.1",
"gene_symbol": "ENSG00000286856",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.310-23542C>G",
"hgvs_p": null
}
],
"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
}