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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: X-13760600-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13760600&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OFD1",
"hgnc_id": 2567,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"inheritance_mode": "XL,AD,AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_003611.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.0803,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Joubert syndrome,Joubert syndrome 10,Orofaciodigital syndrome I,Retinitis pigmentosa 23,Simpson-Golabi-Behmel syndrome type 2,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10596367716789246,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_003611.3",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340096.11",
"protein_coding": true,
"protein_id": "NP_003602.1",
"strand": true,
"transcript": "NM_003611.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000340096.11",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003611.3",
"protein_coding": true,
"protein_id": "ENSP00000344314.6",
"strand": true,
"transcript": "ENST00000340096.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 972,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000380550.6",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Val674Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369923.3",
"strand": true,
"transcript": "ENST00000380550.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000922714.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592773.1",
"strand": true,
"transcript": "ENST00000922714.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000922711.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592770.1",
"strand": true,
"transcript": "ENST00000922711.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 976,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000922712.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Val715Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592771.1",
"strand": true,
"transcript": "ENST00000922712.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 975,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001440947.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427876.1",
"strand": true,
"transcript": "NM_001440947.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 975,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000922710.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592769.1",
"strand": true,
"transcript": "ENST00000922710.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 974,
"aa_ref": "V",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000967537.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Val714Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637596.1",
"strand": true,
"transcript": "ENST00000967537.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 973,
"aa_ref": "V",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922715.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Val675Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592774.1",
"strand": true,
"transcript": "ENST00000922715.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 972,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001330209.2",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Val674Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317138.1",
"strand": true,
"transcript": "NM_001330209.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 971,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967536.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Val674Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637595.1",
"strand": true,
"transcript": "ENST00000967536.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 935,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440948.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Val674Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427877.1",
"strand": true,
"transcript": "NM_001440948.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 935,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922709.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Val674Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592768.1",
"strand": true,
"transcript": "ENST00000922709.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 872,
"aa_ref": "V",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 2589,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1720,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001330210.2",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Val574Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317139.1",
"strand": true,
"transcript": "NM_001330210.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "V",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442583.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Val721Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298539.1",
"strand": true,
"transcript": "XM_047442583.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "V",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8328,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442584.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Val721Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298540.1",
"strand": true,
"transcript": "XM_047442584.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 982,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 2949,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442585.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Val721Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298541.1",
"strand": true,
"transcript": "XM_047442585.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 979,
"aa_ref": "V",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 3298,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047442586.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Val681Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298542.1",
"strand": true,
"transcript": "XM_047442586.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 969,
"aa_ref": "V",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8217,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047442588.1",
"gene_hgnc_id": 2567,
"gene_symbol": "OFD1",
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Val721Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298544.1",
"strand": true,
"transcript": "XM_047442588.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 942,
"aa_ref": "V",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": 3298,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
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