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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: 2-218680624-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218680624&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218680624,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015690.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "NM_015690.5",
"protein_id": "NP_056505.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295709.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015690.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000295709.8",
"protein_id": "ENSP00000295709.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295709.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000392105.7",
"protein_id": "ENSP00000375954.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392105.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "NM_001369423.1",
"protein_id": "NP_001356352.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369423.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000440309.5",
"protein_id": "ENSP00000394095.1",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440309.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000925598.1",
"protein_id": "ENSP00000595657.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925598.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000870277.1",
"protein_id": "ENSP00000540336.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1314,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870277.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000925594.1",
"protein_id": "ENSP00000595653.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925594.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "NM_001243313.2",
"protein_id": "NP_001230242.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243313.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000870278.1",
"protein_id": "ENSP00000540337.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870278.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000955187.1",
"protein_id": "ENSP00000625246.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955187.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000955186.1",
"protein_id": "ENSP00000625245.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955186.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.930T>G",
"hgvs_p": "p.Asp310Glu",
"transcript": "ENST00000870275.1",
"protein_id": "ENSP00000540334.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1239,
"cds_start": 930,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870275.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.894T>G",
"hgvs_p": "p.Asp298Glu",
"transcript": "ENST00000870276.1",
"protein_id": "ENSP00000540335.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 1227,
"cds_start": 894,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870276.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000925595.1",
"protein_id": "ENSP00000595654.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925595.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000925597.1",
"protein_id": "ENSP00000595656.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925597.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "ENST00000925596.1",
"protein_id": "ENSP00000595655.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925596.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "XM_011510959.3",
"protein_id": "XP_011509261.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510959.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "XM_047443931.1",
"protein_id": "XP_047299887.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1158,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443931.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "XM_017003804.3",
"protein_id": "XP_016859293.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 851,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003804.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu",
"transcript": "XM_047443932.1",
"protein_id": "XP_047299888.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 851,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK36",
"gene_hgnc_id": 17209,
"hgvs_c": "n.51T>G",
"hgvs_p": null,
"transcript": "ENST00000414413.5",
"protein_id": "ENSP00000406184.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000414413.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "STK36",
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"hgvs_c": "n.-70T>G",
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"transcript": "ENST00000422778.1",
"protein_id": "ENSP00000409688.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422778.1"
}
],
"gene_symbol": "STK36",
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"dbsnp": "rs55839518",
"frequency_reference_population": 0.0000012396628,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84393e-7,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06670287251472473,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.324,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015690.5",
"gene_symbol": "STK36",
"hgnc_id": 17209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Asp386Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}