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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: 6-145635283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145635283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145635283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005670.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "NM_005670.4",
"protein_id": "NP_005661.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 331,
"cds_start": 680,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367519.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005670.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "ENST00000367519.9",
"protein_id": "ENSP00000356489.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 331,
"cds_start": 680,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005670.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367519.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "ENST00000435470.2",
"protein_id": "ENSP00000405913.2",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 317,
"cds_start": 680,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435470.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000639423.1",
"protein_id": "ENSP00000492701.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.477-7590C>T",
"hgvs_p": null,
"transcript": "ENST00000638262.1",
"protein_id": "ENSP00000492876.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*524C>T",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.1221C>T",
"hgvs_p": null,
"transcript": "ENST00000639799.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000639799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*524C>T",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639049.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "NM_001018041.2",
"protein_id": "NP_001018051.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 317,
"cds_start": 680,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018041.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "NM_001368130.1",
"protein_id": "NP_001355059.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 267,
"cds_start": 680,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368130.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Ala154Val",
"transcript": "ENST00000638717.1",
"protein_id": "ENSP00000491330.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 208,
"cds_start": 461,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638717.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "NM_001360064.2",
"protein_id": "NP_001346993.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360064.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "NM_001360071.2",
"protein_id": "NP_001347000.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360071.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "NM_001368131.1",
"protein_id": "NP_001355060.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368131.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000611340.5",
"protein_id": "ENSP00000480268.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611340.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000638778.1",
"protein_id": "ENSP00000491353.1",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638778.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000638783.1",
"protein_id": "ENSP00000491338.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638783.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000639465.1",
"protein_id": "ENSP00000491180.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 193,
"cds_start": 266,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639465.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Ala73Val",
"transcript": "NM_001368129.2",
"protein_id": "NP_001355058.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 177,
"cds_start": 218,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368129.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Ala73Val",
"transcript": "NM_001368132.1",
"protein_id": "NP_001355061.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 177,
"cds_start": 218,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368132.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "ENST00000450221.6",
"protein_id": "ENSP00000414900.2",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 144,
"cds_start": 302,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450221.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "XM_024446550.2",
"protein_id": "XP_024302318.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 281,
"cds_start": 680,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446550.2"
},
{
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005670.4",
"gene_symbol": "EPM2A",
"hgnc_id": 3413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val"
}
],
"clinvar_disease": "EPM2A-related disorder,Inborn genetic diseases,Intellectual disability,Progressive myoclonic epilepsy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"phenotype_combined": "not provided|Progressive myoclonic epilepsy|Inborn genetic diseases|EPM2A-related disorder|Intellectual disability|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}