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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: 16-56894555-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56894555&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56894555,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000339.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2546T>A",
"hgvs_p": "p.Leu849His",
"transcript": "NM_001126108.2",
"protein_id": "NP_001119580.2",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "ENST00000563236.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126108.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2546T>A",
"hgvs_p": "p.Leu849His",
"transcript": "ENST00000563236.6",
"protein_id": "ENSP00000456149.2",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "NM_001126108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563236.6"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2573T>A",
"hgvs_p": "p.Leu858His",
"transcript": "ENST00000438926.6",
"protein_id": "ENSP00000402152.2",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438926.6"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2570T>A",
"hgvs_p": "p.Leu857His",
"transcript": "ENST00000566786.5",
"protein_id": "ENSP00000457552.1",
"transcript_support_level": 1,
"aa_start": 857,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2599,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566786.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2543T>A",
"hgvs_p": "p.Leu848His",
"transcript": "ENST00000898227.1",
"protein_id": "ENSP00000568286.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898227.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2660T>A",
"hgvs_p": "p.Leu887His",
"transcript": "ENST00000898208.1",
"protein_id": "ENSP00000568267.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2660,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898208.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2651T>A",
"hgvs_p": "p.Leu884His",
"transcript": "ENST00000898207.1",
"protein_id": "ENSP00000568266.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898207.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2648T>A",
"hgvs_p": "p.Leu883His",
"transcript": "ENST00000898218.1",
"protein_id": "ENSP00000568277.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2648,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898218.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2573T>A",
"hgvs_p": "p.Leu858His",
"transcript": "NM_000339.3",
"protein_id": "NP_000330.3",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000339.3"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2570T>A",
"hgvs_p": "p.Leu857His",
"transcript": "NM_001126107.2",
"protein_id": "NP_001119579.2",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2570,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2599,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126107.2"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2573T>A",
"hgvs_p": "p.Leu858His",
"transcript": "ENST00000898221.1",
"protein_id": "ENSP00000568280.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2600,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898221.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2543T>A",
"hgvs_p": "p.Leu848His",
"transcript": "NM_001410896.1",
"protein_id": "NP_001397825.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410896.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2543T>A",
"hgvs_p": "p.Leu848His",
"transcript": "ENST00000262502.5",
"protein_id": "ENSP00000262502.5",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262502.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2543T>A",
"hgvs_p": "p.Leu848His",
"transcript": "ENST00000898220.1",
"protein_id": "ENSP00000568279.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2543,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898220.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2492T>A",
"hgvs_p": "p.Leu831His",
"transcript": "ENST00000898226.1",
"protein_id": "ENSP00000568285.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2492,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898226.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2474T>A",
"hgvs_p": "p.Leu825His",
"transcript": "ENST00000898219.1",
"protein_id": "ENSP00000568278.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 997,
"cds_start": 2474,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898219.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2471T>A",
"hgvs_p": "p.Leu824His",
"transcript": "ENST00000898215.1",
"protein_id": "ENSP00000568274.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 996,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898215.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2450T>A",
"hgvs_p": "p.Leu817His",
"transcript": "ENST00000898214.1",
"protein_id": "ENSP00000568273.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 989,
"cds_start": 2450,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898214.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2447T>A",
"hgvs_p": "p.Leu816His",
"transcript": "ENST00000898217.1",
"protein_id": "ENSP00000568276.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 988,
"cds_start": 2447,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898217.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2444T>A",
"hgvs_p": "p.Leu815His",
"transcript": "ENST00000898210.1",
"protein_id": "ENSP00000568269.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 987,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898210.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2441T>A",
"hgvs_p": "p.Leu814His",
"transcript": "ENST00000898224.1",
"protein_id": "ENSP00000568283.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 986,
"cds_start": 2441,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898224.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2438T>A",
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"transcript": "ENST00000898209.1",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM1",
"PM5",
"PP2",
"PP5_Very_Strong"
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],
"clinvar_disease": "Familial hypokalemia-hypomagnesemia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 US:1",
"phenotype_combined": "Familial hypokalemia-hypomagnesemia|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}