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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: 4-527200-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=527200&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"hgvs_c": "c.2231C>G",
"hgvs_p": "p.Pro744Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001127178.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3092,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8873457908630371,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 983,
"aa_ref": "P",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001127178.3",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2231C>G",
"hgvs_p": "p.Pro744Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453061.7",
"protein_coding": true,
"protein_id": "NP_001120650.1",
"strand": true,
"transcript": "NM_001127178.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 983,
"aa_ref": "P",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000453061.7",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2231C>G",
"hgvs_p": "p.Pro744Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127178.3",
"protein_coding": true,
"protein_id": "ENSP00000415203.2",
"strand": true,
"transcript": "ENST00000453061.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 850,
"aa_ref": "P",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1832,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000383028.8",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1832C>G",
"hgvs_p": "p.Pro611Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372494.4",
"strand": true,
"transcript": "ENST00000383028.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 975,
"aa_ref": "P",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2207,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_017733.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2207C>G",
"hgvs_p": "p.Pro736Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060203.3",
"strand": true,
"transcript": "NM_017733.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 975,
"aa_ref": "P",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2207,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000310340.9",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2207C>G",
"hgvs_p": "p.Pro736Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311750.5",
"strand": true,
"transcript": "ENST00000310340.9",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 913,
"aa_ref": "P",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868086.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2021C>G",
"hgvs_p": "p.Pro674Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538145.1",
"strand": true,
"transcript": "ENST00000868086.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 912,
"aa_ref": "P",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2018,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868087.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2018C>G",
"hgvs_p": "p.Pro673Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538146.1",
"strand": true,
"transcript": "ENST00000868087.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 894,
"aa_ref": "P",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001289051.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1964C>G",
"hgvs_p": "p.Pro655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275980.1",
"strand": true,
"transcript": "NM_001289051.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 894,
"aa_ref": "P",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001345986.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1964C>G",
"hgvs_p": "p.Pro655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332915.1",
"strand": true,
"transcript": "NM_001345986.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 894,
"aa_ref": "P",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000504346.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1964C>G",
"hgvs_p": "p.Pro655Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424800.1",
"strand": true,
"transcript": "ENST00000504346.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 886,
"aa_ref": "P",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001345987.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332916.1",
"strand": true,
"transcript": "NM_001345987.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 850,
"aa_ref": "P",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1832,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001289052.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1832C>G",
"hgvs_p": "p.Pro611Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275981.1",
"strand": true,
"transcript": "NM_001289052.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 640,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1202,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001345988.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Pro401Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332917.1",
"strand": true,
"transcript": "NM_001345988.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001345994.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Pro378Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332923.1",
"strand": true,
"transcript": "NM_001345994.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 1419,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001345990.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332919.1",
"strand": true,
"transcript": "NM_001345990.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 1419,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001345991.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Pro233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332920.1",
"strand": true,
"transcript": "NM_001345991.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 930,
"aa_ref": "P",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5655,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011513490.4",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2231C>G",
"hgvs_p": "p.Pro744Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511792.1",
"strand": true,
"transcript": "XM_011513490.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 861,
"aa_ref": "P",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2586,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047415846.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1865C>G",
"hgvs_p": "p.Pro622Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271802.1",
"strand": true,
"transcript": "XM_047415846.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 657,
"aa_ref": "P",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047415848.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271804.1",
"strand": true,
"transcript": "XM_047415848.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 625,
"aa_ref": "P",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011513492.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Pro386Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511794.1",
"strand": true,
"transcript": "XM_011513492.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 542,
"aa_ref": "P",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1629,
"cds_start": 908,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047415852.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Pro303Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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