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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: 3-184359052-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184359052&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLCN2",
"hgnc_id": 2020,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004366.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0881,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11482560634613037,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2697,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004366.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265593.9",
"protein_coding": true,
"protein_id": "NP_004357.3",
"strand": false,
"transcript": "NM_004366.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2697,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000265593.9",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004366.6",
"protein_coding": true,
"protein_id": "ENSP00000265593.4",
"strand": false,
"transcript": "ENST00000265593.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 881,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 266,
"cds_end": null,
"cds_length": 2646,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000344937.11",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345056.7",
"strand": false,
"transcript": "ENST00000344937.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 937,
"aa_ref": "P",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2814,
"cds_start": 260,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938001.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608060.1",
"strand": false,
"transcript": "ENST00000938001.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 897,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2694,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881270.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551329.1",
"strand": false,
"transcript": "ENST00000881270.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 896,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 243,
"cds_end": null,
"cds_length": 2691,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881273.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551332.1",
"strand": false,
"transcript": "ENST00000881273.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 884,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 306,
"cds_end": null,
"cds_length": 2655,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881268.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551327.1",
"strand": false,
"transcript": "ENST00000881268.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 881,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2646,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171087.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164558.1",
"strand": false,
"transcript": "NM_001171087.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 880,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 268,
"cds_end": null,
"cds_length": 2643,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962393.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632452.1",
"strand": false,
"transcript": "ENST00000962393.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 872,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3199,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2619,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962392.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632451.1",
"strand": false,
"transcript": "ENST00000962392.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2610,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171089.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164560.1",
"strand": false,
"transcript": "NM_001171089.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 267,
"cds_end": null,
"cds_length": 2610,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000457512.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391928.1",
"strand": false,
"transcript": "ENST00000457512.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2604,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881271.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551330.1",
"strand": false,
"transcript": "ENST00000881271.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 863,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2592,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881267.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551326.1",
"strand": false,
"transcript": "ENST00000881267.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2565,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001171088.3",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164559.1",
"strand": false,
"transcript": "NM_001171088.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 267,
"cds_end": null,
"cds_length": 2565,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434054.6",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400425.2",
"strand": false,
"transcript": "ENST00000434054.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 850,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2553,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962391.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632450.1",
"strand": false,
"transcript": "ENST00000962391.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 845,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2538,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881269.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551328.1",
"strand": false,
"transcript": "ENST00000881269.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 834,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 241,
"cds_end": null,
"cds_length": 2505,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881272.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551331.1",
"strand": false,
"transcript": "ENST00000881272.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1395,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636492.1",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Pro19Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490313.1",
"strand": false,
"transcript": "ENST00000636492.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 863,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 269,
"cds_end": null,
"cds_length": 2592,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006713489.2",
"gene_hgnc_id": 2020,
"gene_symbol": "CLCN2",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Pro48Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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