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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: 22-38112557-CC-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38112557&ref=CC&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLA2G6",
"hgnc_id": 9039,
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_003560.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"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": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003560.4",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000332509.8",
"protein_coding": true,
"protein_id": "NP_003551.2",
"strand": false,
"transcript": "NM_003560.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000332509.8",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003560.4",
"protein_coding": true,
"protein_id": "ENSP00000333142.3",
"strand": false,
"transcript": "ENST00000332509.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402064.5",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386100.1",
"strand": false,
"transcript": "ENST00000402064.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000668949.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2264_2265delGGinsCC",
"hgvs_p": "p.Arg755Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499711.1",
"strand": false,
"transcript": "ENST00000668949.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349864.2",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336793.1",
"strand": false,
"transcript": "NM_001349864.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000660610.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499555.1",
"strand": false,
"transcript": "ENST00000660610.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000663895.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499712.1",
"strand": false,
"transcript": "ENST00000663895.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000667521.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499665.1",
"strand": false,
"transcript": "ENST00000667521.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885143.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555202.1",
"strand": false,
"transcript": "ENST00000885143.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885146.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2222_2223delGGinsCC",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555205.1",
"strand": false,
"transcript": "ENST00000885146.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 760,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 2182,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664587.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2084_2085delGGinsCC",
"hgvs_p": "p.Arg695Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499394.1",
"strand": false,
"transcript": "ENST00000664587.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001004426.3",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001004426.1",
"strand": false,
"transcript": "NM_001004426.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199562.3",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186491.1",
"strand": false,
"transcript": "NM_001199562.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349865.2",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336794.1",
"strand": false,
"transcript": "NM_001349865.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349866.2",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336795.1",
"strand": false,
"transcript": "NM_001349866.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335539.7",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335149.3",
"strand": false,
"transcript": "ENST00000335539.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885144.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555203.1",
"strand": false,
"transcript": "ENST00000885144.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885145.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555204.1",
"strand": false,
"transcript": "ENST00000885145.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955628.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2060_2061delGGinsCC",
"hgvs_p": "p.Arg687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625687.1",
"strand": false,
"transcript": "ENST00000955628.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "R",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955632.1",
"gene_hgnc_id": 9039,
"gene_symbol": "PLA2G6",
"hgvs_c": "c.2030_2031delGGinsCC",
"hgvs_p": "p.Arg677Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625691.1",
"strand": false,
"transcript": "ENST00000955632.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 734,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2205,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 16,
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