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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: 3-193667175-CGA-AGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=193667175&ref=CGA&alt=AGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "OPA1",
"hgnc_id": 8140,
"hgvs_c": "c.2878_2880delCGAinsAGG",
"hgvs_p": "p.961",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_130837.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000306963",
"hgnc_id": null,
"hgvs_c": "n.941_943delTCGinsCCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000822235.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102724808",
"hgnc_id": null,
"hgvs_c": "n.420+1743_420+1745delTCGinsCCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "XR_924835.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGG",
"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": "R",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 3048,
"cds_end": null,
"cds_length": 3048,
"cds_start": 2878,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130837.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2878_2880delCGAinsAGG",
"hgvs_p": "p.961",
"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": "R",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "R",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 3048,
"cds_end": null,
"cds_length": 3048,
"cds_start": 2878,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361510.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2878_2880delCGAinsAGG",
"hgvs_p": "p.961",
"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": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2824,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361908.8",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2824_2826delCGAinsAGG",
"hgvs_p": "p.943",
"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": "R",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "R",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2893,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968586.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2893_2895delCGAinsAGG",
"hgvs_p": "p.966",
"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": "R",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "R",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2839,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968584.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2839_2841delCGAinsAGG",
"hgvs_p": "p.948",
"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": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6375,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2824,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130836.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2824_2826delCGAinsAGG",
"hgvs_p": "p.943",
"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": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2824,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890753.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2824_2826delCGAinsAGG",
"hgvs_p": "p.943",
"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": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6389,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2824,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925500.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2824_2826delCGAinsAGG",
"hgvs_p": "p.943",
"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": "R",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": 2940,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2770,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130835.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2770_2772delCGAinsAGG",
"hgvs_p": "p.925",
"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": "R",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6384,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2770,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361715.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2770_2772delCGAinsAGG",
"hgvs_p": "p.925",
"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": "R",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2770,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890756.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2770_2772delCGAinsAGG",
"hgvs_p": "p.925",
"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": "R",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6035,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2770,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968579.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2770_2772delCGAinsAGG",
"hgvs_p": "p.925",
"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": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6318,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2767,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130834.3",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2767_2769delCGAinsAGG",
"hgvs_p": "p.924",
"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": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2767,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392437.6",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2767_2769delCGAinsAGG",
"hgvs_p": "p.924",
"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": "R",
"aa_end": null,
"aa_length": 978,
"aa_ref": "R",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2767,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890755.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2767_2769delCGAinsAGG",
"hgvs_p": "p.924",
"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": "R",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 2906,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2758,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890757.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2758_2760delCGAinsAGG",
"hgvs_p": "p.921",
"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": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2713,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392436.7",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2713_2715delCGAinsAGG",
"hgvs_p": "p.906",
"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": "R",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": 2924,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2737,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968581.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2737_2739delCGAinsAGG",
"hgvs_p": "p.914",
"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": "R",
"aa_end": null,
"aa_length": 965,
"aa_ref": "R",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2728,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645553.1",
"gene_hgnc_id": 8140,
"gene_symbol": "OPA1",
"hgvs_c": "c.2728_2730delCGAinsAGG",
"hgvs_p": "p.911",
"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": "R",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6267,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2716,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_130833.3",
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