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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: 12-81277391-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81277391&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPFIA2",
"hgnc_id": 9246,
"hgvs_c": "c.3236T>C",
"hgvs_p": "p.Met1079Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003625.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPFIA2-AS1",
"hgnc_id": 53397,
"hgvs_c": "n.176-5296A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000549161.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.7695,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6741765141487122,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "M",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3236,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_003625.5",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3236T>C",
"hgvs_p": "p.Met1079Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000549396.6",
"protein_coding": true,
"protein_id": "NP_003616.2",
"strand": false,
"transcript": "NM_003625.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "M",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3236,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000549396.6",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3236T>C",
"hgvs_p": "p.Met1079Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003625.5",
"protein_coding": true,
"protein_id": "ENSP00000450337.1",
"strand": false,
"transcript": "ENST00000549396.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "M",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000548586.5",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3218T>C",
"hgvs_p": "p.Met1073Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449338.1",
"strand": false,
"transcript": "ENST00000548586.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "M",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 3532,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3236,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000550584.6",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3236T>C",
"hgvs_p": "p.Met1079Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449558.2",
"strand": false,
"transcript": "ENST00000550584.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "M",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 3423,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000552948.5",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3173T>C",
"hgvs_p": "p.Met1058Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447868.1",
"strand": false,
"transcript": "ENST00000552948.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "M",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5585,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001220476.2",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3218T>C",
"hgvs_p": "p.Met1073Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207405.1",
"strand": false,
"transcript": "NM_001220476.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "M",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5659,
"cdna_start": 3494,
"cds_end": null,
"cds_length": 3744,
"cds_start": 3236,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001220473.3",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3236T>C",
"hgvs_p": "p.Met1079Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207402.1",
"strand": false,
"transcript": "NM_001220473.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "M",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 3283,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001220475.2",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3173T>C",
"hgvs_p": "p.Met1058Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207404.1",
"strand": false,
"transcript": "NM_001220475.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "M",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 3449,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001220474.3",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3191T>C",
"hgvs_p": "p.Met1064Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207403.1",
"strand": false,
"transcript": "NM_001220474.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "M",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 3464,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3191,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000549325.5",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.3191T>C",
"hgvs_p": "p.Met1064Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450298.1",
"strand": false,
"transcript": "ENST00000549325.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "M",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 3272,
"cds_end": null,
"cds_length": 3471,
"cds_start": 2933,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001220477.2",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2933T>C",
"hgvs_p": "p.Met978Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207406.1",
"strand": false,
"transcript": "NM_001220477.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "M",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 3272,
"cds_end": null,
"cds_length": 3471,
"cds_start": 2933,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000407050.8",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2933T>C",
"hgvs_p": "p.Met978Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385093.4",
"strand": false,
"transcript": "ENST00000407050.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
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"aa_length": 1152,
"aa_ref": "M",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5517,
"cdna_start": 3260,
"cds_end": null,
"cds_length": 3459,
"cds_start": 2921,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001220478.2",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2921T>C",
"hgvs_p": "p.Met974Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207407.1",
"strand": false,
"transcript": "NM_001220478.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5517,
"cdna_start": 3260,
"cds_end": null,
"cds_length": 3459,
"cds_start": 2921,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000333447.11",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2921T>C",
"hgvs_p": "p.Met974Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327416.8",
"strand": false,
"transcript": "ENST00000333447.11",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "M",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 3229,
"cds_end": null,
"cds_length": 3459,
"cds_start": 2921,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000443686.7",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2921T>C",
"hgvs_p": "p.Met974Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388373.3",
"strand": false,
"transcript": "ENST00000443686.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "M",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5298,
"cdna_start": 3041,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001282536.1",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2777T>C",
"hgvs_p": "p.Met926Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269465.1",
"strand": false,
"transcript": "NM_001282536.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1104,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 3012,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000550359.6",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.2777T>C",
"hgvs_p": "p.Met926Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447273.2",
"strand": false,
"transcript": "ENST00000550359.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 783,
"aa_ref": "M",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001220479.3",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207408.1",
"strand": false,
"transcript": "NM_001220479.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "M",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000541570.6",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438337.2",
"strand": false,
"transcript": "ENST00000541570.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "M",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1332,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001220480.3",
"gene_hgnc_id": 9246,
"gene_symbol": "PPFIA2",
"hgvs_c": "c.794T>C",
"hgvs_p": "p.Met265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207409.1",
"strand": false,
"transcript": "NM_001220480.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "M",
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]
}