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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: 3-193631619-AC-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193631619&ref=AC&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "OPA1",
"hgnc_id": 8140,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000361908.8",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1015,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": null,
"cds_end": null,
"cds_length": 3048,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361510.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130837.3",
"protein_coding": true,
"protein_id": "ENSP00000355324.2",
"strand": true,
"transcript": "ENST00000361510.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 997,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": null,
"cds_end": null,
"cds_length": 2994,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361908.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354681.3",
"strand": true,
"transcript": "ENST00000361908.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1020,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": null,
"cds_end": null,
"cds_length": 3063,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968586.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638645.1",
"strand": true,
"transcript": "ENST00000968586.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1002,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": null,
"cds_end": null,
"cds_length": 3009,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968584.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638643.1",
"strand": true,
"transcript": "ENST00000968584.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 997,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": 2994,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890753.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560812.1",
"strand": true,
"transcript": "ENST00000890753.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 997,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6389,
"cdna_start": null,
"cds_end": null,
"cds_length": 2994,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925500.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595559.1",
"strand": true,
"transcript": "ENST00000925500.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": null,
"cds_end": null,
"cds_length": 2940,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361715.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355311.2",
"strand": true,
"transcript": "ENST00000361715.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": null,
"cds_end": null,
"cds_length": 2940,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890756.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560815.1",
"strand": true,
"transcript": "ENST00000890756.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 979,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": null,
"cds_end": null,
"cds_length": 2940,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968579.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638638.1",
"strand": true,
"transcript": "ENST00000968579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 978,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": null,
"cds_end": null,
"cds_length": 2937,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392437.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376232.2",
"strand": true,
"transcript": "ENST00000392437.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": 978,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": 2937,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890755.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560814.1",
"strand": true,
"transcript": "ENST00000890755.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 975,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890757.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560816.1",
"strand": true,
"transcript": "ENST00000890757.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2919,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392436.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376231.3",
"strand": true,
"transcript": "ENST00000392436.7",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": null,
"cds_end": null,
"cds_length": 2907,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968581.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638640.1",
"strand": true,
"transcript": "ENST00000968581.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": null,
"cds_end": null,
"cds_length": 2898,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000645553.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494725.1",
"strand": true,
"transcript": "ENST00000645553.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6330,
"cdna_start": null,
"cds_end": null,
"cds_length": 2886,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361150.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354781.2",
"strand": true,
"transcript": "ENST00000361150.6",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6328,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361828.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000354429.3",
"strand": true,
"transcript": "ENST00000361828.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890752.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560811.1",
"strand": true,
"transcript": "ENST00000890752.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": null,
"cds_end": null,
"cds_length": 2829,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968585.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638644.1",
"strand": true,
"transcript": "ENST00000968585.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": null,
"cds_end": null,
"cds_length": 2778,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968580.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638639.1",
"strand": true,
"transcript": "ENST00000968580.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 924,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": null,
"cds_end": null,
"cds_length": 2775,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646793.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494512.1",
"strand": true,
"transcript": "ENST00000646793.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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