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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: 16-56899607-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56899607&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56899607,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000339.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2711G>A",
"hgvs_p": "p.Arg904Gln",
"transcript": "NM_001126108.2",
"protein_id": "NP_001119580.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000563236.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126108.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2711G>A",
"hgvs_p": "p.Arg904Gln",
"transcript": "ENST00000563236.6",
"protein_id": "ENSP00000456149.2",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001126108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563236.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln",
"transcript": "ENST00000438926.6",
"protein_id": "ENSP00000402152.2",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438926.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Gln",
"transcript": "ENST00000566786.5",
"protein_id": "ENSP00000457552.1",
"transcript_support_level": 1,
"aa_start": 912,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566786.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903Gln",
"transcript": "ENST00000898227.1",
"protein_id": "ENSP00000568286.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898227.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2825G>A",
"hgvs_p": "p.Arg942Gln",
"transcript": "ENST00000898208.1",
"protein_id": "ENSP00000568267.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898208.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2816G>A",
"hgvs_p": "p.Arg939Gln",
"transcript": "ENST00000898207.1",
"protein_id": "ENSP00000568266.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2816,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898207.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938Gln",
"transcript": "ENST00000898218.1",
"protein_id": "ENSP00000568277.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898218.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln",
"transcript": "NM_000339.3",
"protein_id": "NP_000330.3",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000339.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2735G>A",
"hgvs_p": "p.Arg912Gln",
"transcript": "NM_001126107.2",
"protein_id": "NP_001119579.2",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126107.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Arg913Gln",
"transcript": "ENST00000898221.1",
"protein_id": "ENSP00000568280.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898221.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903Gln",
"transcript": "NM_001410896.1",
"protein_id": "NP_001397825.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410896.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903Gln",
"transcript": "ENST00000262502.5",
"protein_id": "ENSP00000262502.5",
"transcript_support_level": 5,
"aa_start": 903,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262502.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903Gln",
"transcript": "ENST00000898220.1",
"protein_id": "ENSP00000568279.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898220.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2657G>A",
"hgvs_p": "p.Arg886Gln",
"transcript": "ENST00000898226.1",
"protein_id": "ENSP00000568285.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2657,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898226.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2639G>A",
"hgvs_p": "p.Arg880Gln",
"transcript": "ENST00000898219.1",
"protein_id": "ENSP00000568278.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 997,
"cds_start": 2639,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898219.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2636G>A",
"hgvs_p": "p.Arg879Gln",
"transcript": "ENST00000898215.1",
"protein_id": "ENSP00000568274.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 996,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898215.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2633G>A",
"hgvs_p": "p.Arg878Gln",
"transcript": "ENST00000898213.1",
"protein_id": "ENSP00000568272.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 995,
"cds_start": 2633,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898213.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2615G>A",
"hgvs_p": "p.Arg872Gln",
"transcript": "ENST00000898214.1",
"protein_id": "ENSP00000568273.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898214.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Arg871Gln",
"transcript": "ENST00000898217.1",
"protein_id": "ENSP00000568276.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 988,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898217.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Arg870Gln",
"transcript": "ENST00000898210.1",
"protein_id": "ENSP00000568269.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 987,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898210.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2606G>A",
"hgvs_p": "p.Arg869Gln",
"transcript": "ENST00000898224.1",
"protein_id": "ENSP00000568283.1",
"transcript_support_level": null,
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{
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],
"clinvar_disease": "Familial hypokalemia-hypomagnesemia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Familial hypokalemia-hypomagnesemia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}