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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: 22-42876164-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42876164&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PACSIN2",
"hgnc_id": 8571,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Glu443Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001349969.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "22",
"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": 0.7081683874130249,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001184970.3",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263246.8",
"protein_coding": true,
"protein_id": "NP_001171899.1",
"strand": false,
"transcript": "NM_001184970.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000263246.8",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001184970.3",
"protein_coding": true,
"protein_id": "ENSP00000263246.3",
"strand": false,
"transcript": "ENST00000263246.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000403744.7",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385372.3",
"strand": false,
"transcript": "ENST00000403744.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 445,
"aa_ref": "E",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000407585.5",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385952.1",
"strand": false,
"transcript": "ENST00000407585.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "E",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859857.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Glu488Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529916.1",
"strand": false,
"transcript": "ENST00000859857.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 492,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971203.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Glu447Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641262.1",
"strand": false,
"transcript": "ENST00000971203.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 488,
"aa_ref": "E",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349969.2",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Glu443Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336898.1",
"strand": false,
"transcript": "NM_001349969.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 488,
"aa_ref": "E",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349970.2",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Glu443Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336899.1",
"strand": false,
"transcript": "NM_001349970.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_007229.3",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009160.2",
"strand": false,
"transcript": "NM_007229.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000402229.5",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385040.1",
"strand": false,
"transcript": "ENST00000402229.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859849.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529908.1",
"strand": false,
"transcript": "ENST00000859849.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859852.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529911.1",
"strand": false,
"transcript": "ENST00000859852.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859853.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529912.1",
"strand": false,
"transcript": "ENST00000859853.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859854.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529913.1",
"strand": false,
"transcript": "ENST00000859854.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859856.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529915.1",
"strand": false,
"transcript": "ENST00000859856.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859858.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529917.1",
"strand": false,
"transcript": "ENST00000859858.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859859.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529918.1",
"strand": false,
"transcript": "ENST00000859859.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859860.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529919.1",
"strand": false,
"transcript": "ENST00000859860.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859863.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529922.1",
"strand": false,
"transcript": "ENST00000859863.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859864.1",
"gene_hgnc_id": 8571,
"gene_symbol": "PACSIN2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Glu441Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529923.1",
"strand": false,
"transcript": "ENST00000859864.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 486,
"aa_ref": "E",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000859866.1",
"gene_hgnc_id": 8571,
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