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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: 12-32731362-CGT-TGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32731362&ref=CGT&alt=TGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNM1L",
"hgnc_id": 2973,
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001278464.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "YARS2",
"hgnc_id": 24249,
"hgvs_c": "n.460-3845_460-3843delACGinsGCA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000551673.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PP2,PP3",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"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": "C",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278464.2",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000553257.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265393.1",
"strand": true,
"transcript": "NM_001278464.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 749,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553257.6",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001278464.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449089.1",
"strand": true,
"transcript": "ENST00000553257.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 736,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012062.5",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000549701.6",
"protein_coding": true,
"protein_id": "NP_036192.2",
"strand": true,
"transcript": "NM_012062.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 736,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549701.6",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012062.5",
"protein_coding": true,
"protein_id": "ENSP00000450399.1",
"strand": true,
"transcript": "ENST00000549701.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 738,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381000.8",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370388.4",
"strand": true,
"transcript": "ENST00000381000.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547312.5",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448610.1",
"strand": true,
"transcript": "ENST00000547312.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4439,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452533.6",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415131.2",
"strand": true,
"transcript": "ENST00000452533.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000266481.10",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266481.6",
"strand": true,
"transcript": "ENST00000266481.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945622.1",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615681.1",
"strand": true,
"transcript": "ENST00000945622.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924992.1",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595051.1",
"strand": true,
"transcript": "ENST00000924992.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 738,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278465.2",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265394.1",
"strand": true,
"transcript": "NM_001278465.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 727,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861255.1",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531314.1",
"strand": true,
"transcript": "ENST00000861255.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4481,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278463.2",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265392.1",
"strand": true,
"transcript": "NM_001278463.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 719,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551476.6",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1156_1158delCGTinsTGC",
"hgvs_p": "p.Arg386Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447845.2",
"strand": true,
"transcript": "ENST00000551476.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 712,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330380.2",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317309.1",
"strand": true,
"transcript": "NM_001330380.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 712,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358214.9",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1246_1248delCGTinsTGC",
"hgvs_p": "p.Arg416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350948.5",
"strand": true,
"transcript": "ENST00000358214.9",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012063.4",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036193.2",
"strand": true,
"transcript": "NM_012063.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005690.5",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1207_1209delCGTinsTGC",
"hgvs_p": "p.Arg403Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005681.2",
"strand": true,
"transcript": "NM_005690.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000548750.6",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1120_1122delCGTinsTGC",
"hgvs_p": "p.Arg374Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447788.2",
"strand": true,
"transcript": "ENST00000548750.6",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945620.1",
"gene_hgnc_id": 2973,
"gene_symbol": "DNM1L",
"hgvs_c": "c.1159_1161delCGTinsTGC",
"hgvs_p": "p.Arg387Cys",
"intron_rank": null,
"intron_rank_end": null,
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