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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: 3-184357063-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184357063&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184357063,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004366.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_004366.6",
"protein_id": "NP_004357.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 898,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265593.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004366.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000265593.9",
"protein_id": "ENSP00000265593.4",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 898,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004366.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265593.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000344937.11",
"protein_id": "ENSP00000345056.7",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 881,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344937.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1132G>C",
"hgvs_p": "p.Val378Leu",
"transcript": "ENST00000938001.1",
"protein_id": "ENSP00000608060.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 937,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938001.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000881270.1",
"protein_id": "ENSP00000551329.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 897,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881270.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000881273.1",
"protein_id": "ENSP00000551332.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 896,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881273.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Val325Leu",
"transcript": "ENST00000881268.1",
"protein_id": "ENSP00000551327.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 884,
"cds_start": 973,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881268.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_001171087.3",
"protein_id": "NP_001164558.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 881,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171087.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000962393.1",
"protein_id": "ENSP00000632452.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 880,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962393.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Val313Leu",
"transcript": "ENST00000962392.1",
"protein_id": "ENSP00000632451.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 872,
"cds_start": 937,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962392.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_001171089.3",
"protein_id": "NP_001164560.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 869,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171089.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000457512.1",
"protein_id": "ENSP00000391928.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 869,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457512.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Val308Leu",
"transcript": "ENST00000881271.1",
"protein_id": "ENSP00000551330.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 867,
"cds_start": 922,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881271.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000881267.1",
"protein_id": "ENSP00000551326.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 863,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881267.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Val295Leu",
"transcript": "NM_001171088.3",
"protein_id": "NP_001164559.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 854,
"cds_start": 883,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171088.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Val295Leu",
"transcript": "ENST00000434054.6",
"protein_id": "ENSP00000400425.2",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 854,
"cds_start": 883,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434054.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000962391.1",
"protein_id": "ENSP00000632450.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 850,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962391.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Val286Leu",
"transcript": "ENST00000881269.1",
"protein_id": "ENSP00000551328.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 845,
"cds_start": 856,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881269.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000881272.1",
"protein_id": "ENSP00000551331.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 834,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881272.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.898G>C",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000636492.1",
"protein_id": "ENSP00000490313.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 464,
"cds_start": 898,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636492.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "XM_006713489.2",
"protein_id": "XP_006713552.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 863,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713489.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "XM_011512401.2",
"protein_id": "XP_011510703.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 835,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_004366.6",
"gene_symbol": "CLCN2",
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"effects": [
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"inheritance_mode": "AR,AD",
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],
"clinvar_disease": " 11, idiopathic generalized, susceptibility to,Epilepsy,Familial hyperaldosteronism type II,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"phenotype_combined": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}