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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: 1-26469069-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26469069&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26469069,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000236342.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "NM_205861.3",
"protein_id": "NP_995583.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 333,
"cds_start": 940,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "ENST00000236342.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "ENST00000236342.12",
"protein_id": "ENSP00000236342.7",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 333,
"cds_start": 940,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "NM_205861.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Leu275Val",
"transcript": "ENST00000526219.5",
"protein_id": "ENSP00000434219.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 294,
"cds_start": 823,
"cds_end": null,
"cds_length": 885,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.*741C>G",
"hgvs_p": null,
"transcript": "ENST00000434391.6",
"protein_id": "ENSP00000403529.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.*741C>G",
"hgvs_p": null,
"transcript": "ENST00000434391.6",
"protein_id": "ENSP00000403529.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.1037C>G",
"hgvs_p": "p.Pro346Arg",
"transcript": "ENST00000703262.1",
"protein_id": "ENSP00000515247.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 354,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "NM_024887.4",
"protein_id": "NP_079163.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "ENST00000360009.6",
"protein_id": "ENSP00000353104.2",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "ENST00000528557.6",
"protein_id": "ENSP00000515248.1",
"transcript_support_level": 4,
"aa_start": 314,
"aa_end": null,
"aa_length": 333,
"cds_start": 940,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Leu280Val",
"transcript": "NM_001243564.2",
"protein_id": "NP_001230493.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 299,
"cds_start": 838,
"cds_end": null,
"cds_length": 900,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Leu280Val",
"transcript": "ENST00000525682.6",
"protein_id": "ENSP00000434984.1",
"transcript_support_level": 2,
"aa_start": 280,
"aa_end": null,
"aa_length": 299,
"cds_start": 838,
"cds_end": null,
"cds_length": 900,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.832C>G",
"hgvs_p": "p.Leu278Val",
"transcript": "ENST00000703198.1",
"protein_id": "ENSP00000515227.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 832,
"cds_end": null,
"cds_length": 894,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Leu275Val",
"transcript": "NM_001243565.2",
"protein_id": "NP_001230494.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 294,
"cds_start": 823,
"cds_end": null,
"cds_length": 885,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.796C>G",
"hgvs_p": "p.Leu266Val",
"transcript": "ENST00000703202.1",
"protein_id": "ENSP00000515231.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 285,
"cds_start": 796,
"cds_end": null,
"cds_length": 858,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Leu241Val",
"transcript": "ENST00000703199.1",
"protein_id": "ENSP00000515228.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 260,
"cds_start": 721,
"cds_end": null,
"cds_length": 783,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.661C>G",
"hgvs_p": "p.Leu221Val",
"transcript": "NM_001319959.2",
"protein_id": "NP_001306888.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 240,
"cds_start": 661,
"cds_end": null,
"cds_length": 723,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000431933.5",
"protein_id": "ENSP00000399781.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 169,
"cds_start": 448,
"cds_end": null,
"cds_length": 510,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "XM_047430849.1",
"protein_id": "XP_047286805.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "XM_047430850.1",
"protein_id": "XP_047286806.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "XM_047430851.1",
"protein_id": "XP_047286807.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Leu315Val",
"transcript": "XM_047430852.1",
"protein_id": "XP_047286808.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 334,
"cds_start": 943,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "XM_047430853.1",
"protein_id": "XP_047286809.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 333,
"cds_start": 940,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val",
"transcript": "XM_047430854.1",
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000236342.12",
"gene_symbol": "DHDDS",
"hgnc_id": 20603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Leu314Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000746082.1",
"gene_symbol": "DHDDS-AS1",
"hgnc_id": 40925,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.403+2805G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}