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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: 2-218679664-AAG-CGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218679664&ref=AAG&alt=CGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "STK36",
"hgnc_id": 17209,
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015690.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 3948,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015690.5",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295709.8",
"protein_coding": true,
"protein_id": "NP_056505.2",
"strand": true,
"transcript": "NM_015690.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 3948,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295709.8",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015690.5",
"protein_coding": true,
"protein_id": "ENSP00000295709.3",
"strand": true,
"transcript": "ENST00000295709.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 3885,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392105.7",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375954.3",
"strand": true,
"transcript": "ENST00000392105.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 3948,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369423.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356352.1",
"strand": true,
"transcript": "NM_001369423.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 3948,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440309.5",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394095.1",
"strand": true,
"transcript": "ENST00000440309.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 3948,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925598.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595657.1",
"strand": true,
"transcript": "ENST00000925598.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 3945,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870277.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540336.1",
"strand": true,
"transcript": "ENST00000870277.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 3921,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925594.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595653.1",
"strand": true,
"transcript": "ENST00000925594.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 3885,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243313.2",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230242.1",
"strand": true,
"transcript": "NM_001243313.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 999,
"cds_end": null,
"cds_length": 3885,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870278.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540337.1",
"strand": true,
"transcript": "ENST00000870278.1",
"transcript_support_level": null
},
{
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"aa_length": 1294,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 3885,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955187.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625246.1",
"strand": true,
"transcript": "ENST00000955187.1",
"transcript_support_level": null
},
{
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"aa_length": 1282,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 3849,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955186.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625245.1",
"strand": true,
"transcript": "ENST00000955186.1",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1026,
"cds_end": null,
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"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925595.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595654.1",
"strand": true,
"transcript": "ENST00000925595.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1187,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 3564,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925597.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595656.1",
"strand": true,
"transcript": "ENST00000925597.1",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1020,
"cds_end": null,
"cds_length": 3477,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925596.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595655.1",
"strand": true,
"transcript": "ENST00000925596.1",
"transcript_support_level": null
},
{
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"aa_length": 1306,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 3921,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510959.3",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509261.1",
"strand": true,
"transcript": "XM_011510959.3",
"transcript_support_level": null
},
{
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"aa_length": 1306,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4766,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 3921,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "XM_047443931.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299887.1",
"strand": true,
"transcript": "XM_047443931.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 2556,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003804.3",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859293.2",
"strand": true,
"transcript": "XM_017003804.3",
"transcript_support_level": null
},
{
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"aa_ref": "K",
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"biotype": "protein_coding",
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"cdna_start": 1102,
"cds_end": null,
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"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "XM_047443932.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.883_885delAAGinsCGC",
"hgvs_p": "p.Lys295Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299888.1",
"strand": true,
"transcript": "XM_047443932.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1239,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": null,
"cds_end": null,
"cds_length": 3720,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870275.1",
"gene_hgnc_id": 17209,
"gene_symbol": "STK36",
"hgvs_c": "c.685-30_685-28delAAGinsCGC",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540334.1",
"strand": true,
"transcript": "ENST00000870275.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": null,
"cds_end": null,
"cds_length": 3684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870276.1",
"gene_hgnc_id": 17209,
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