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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: 3-193642975-C-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193642975&ref=C&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "OPA1",
"hgnc_id": 8140,
"hgvs_c": "c.1232_1233dupTT",
"hgvs_p": "p.Ala412fs",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_130837.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "not provided",
"clinvar_disease": "Autosomal dominant optic atrophy classic form",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "A",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1234,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_130837.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1232_1233dupTT",
"hgvs_p": "p.Ala412fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361510.8",
"protein_coding": true,
"protein_id": "NP_570850.2",
"strand": true,
"transcript": "NM_130837.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "A",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 3048,
"cds_start": 1234,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361510.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1232_1233dupTT",
"hgvs_p": "p.Ala412fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 997,
"aa_ref": "A",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1180,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361908.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1178_1179dupTT",
"hgvs_p": "p.Ala394fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1249,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968586.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1247_1248dupTT",
"hgvs_p": "p.Ala417fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "A",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 3009,
"cds_start": 1195,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968584.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1193_1194dupTT",
"hgvs_p": "p.Ala399fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 997,
"aa_ref": "A",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6375,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1180,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_130836.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1178_1179dupTT",
"hgvs_p": "p.Ala394fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570849.2",
"strand": true,
"transcript": "NM_130836.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 997,
"aa_ref": "A",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1180,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890753.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1178_1179dupTT",
"hgvs_p": "p.Ala394fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 997,
"aa_ref": "A",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6389,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1180,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925500.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1178_1179dupTT",
"hgvs_p": "p.Ala394fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 979,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1126,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_130835.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1124_1125dupTT",
"hgvs_p": "p.Ala376fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570848.1",
"strand": true,
"transcript": "NM_130835.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 979,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1126,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361715.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1124_1125dupTT",
"hgvs_p": "p.Ala376fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 979,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1072,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890756.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1070_1071dupTT",
"hgvs_p": "p.Ala358fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 979,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1126,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000968579.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1124_1125dupTT",
"hgvs_p": "p.Ala376fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 978,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 2937,
"cds_start": 1123,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_130834.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1121_1122dupTT",
"hgvs_p": "p.Ala375fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570847.2",
"strand": true,
"transcript": "NM_130834.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 978,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 2937,
"cds_start": 1123,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000392437.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1121_1122dupTT",
"hgvs_p": "p.Ala375fs",
"intron_rank": null,
"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": "L?",
"aa_end": null,
"aa_length": 978,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 2937,
"cds_start": 1069,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890755.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1067_1068dupTT",
"hgvs_p": "p.Ala357fs",
"intron_rank": null,
"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
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1114,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890757.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1112_1113dupTT",
"hgvs_p": "p.Ala372fs",
"intron_rank": null,
"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
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 2919,
"cds_start": 1069,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000392436.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1067_1068dupTT",
"hgvs_p": "p.Ala357fs",
"intron_rank": null,
"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
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 968,
"aa_ref": "A",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 2907,
"cds_start": 1234,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968581.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1232_1233dupTT",
"hgvs_p": "p.Ala412fs",
"intron_rank": null,
"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
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 965,
"aa_ref": "A",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2898,
"cds_start": 1084,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645553.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1082_1083dupTT",
"hgvs_p": "p.Ala362fs",
"intron_rank": null,
"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
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 961,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6267,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1072,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_130833.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.1070_1071dupTT",
"hgvs_p": "p.Ala358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570846.1",
"strand": true,
"transcript": "NM_130833.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 961,
"aa_ref": "A",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6330,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1072,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361150.6",
"gene_hgnc_id": 8140,
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