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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: 19-4844773-GCC-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4844773&ref=GCC&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PLIN3",
"hgnc_id": 16893,
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005817.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005817.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221957.9",
"protein_coding": true,
"protein_id": "NP_005808.3",
"strand": false,
"transcript": "NM_005817.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000221957.9",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005817.5",
"protein_coding": true,
"protein_id": "ENSP00000221957.3",
"strand": false,
"transcript": "ENST00000221957.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 433,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1302,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585479.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465596.1",
"strand": false,
"transcript": "ENST00000585479.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884464.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554523.1",
"strand": false,
"transcript": "ENST00000884464.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884466.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554525.1",
"strand": false,
"transcript": "ENST00000884466.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884467.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554526.1",
"strand": false,
"transcript": "ENST00000884467.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928988.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599047.1",
"strand": false,
"transcript": "ENST00000928988.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928989.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599048.1",
"strand": false,
"transcript": "ENST00000928989.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958157.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628216.1",
"strand": false,
"transcript": "ENST00000958157.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958159.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628218.1",
"strand": false,
"transcript": "ENST00000958159.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958160.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628219.1",
"strand": false,
"transcript": "ENST00000958160.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1305,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958162.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628221.1",
"strand": false,
"transcript": "ENST00000958162.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 433,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1302,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164189.2",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.853_855delGGCinsTGT",
"hgvs_p": "p.Gly285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157661.1",
"strand": false,
"transcript": "NM_001164189.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 431,
"aa_ref": "G",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1296,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884463.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.844_846delGGCinsTGT",
"hgvs_p": "p.Gly282Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554522.1",
"strand": false,
"transcript": "ENST00000884463.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 430,
"aa_ref": "G",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1293,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884460.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.841_843delGGCinsTGT",
"hgvs_p": "p.Gly281Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554519.1",
"strand": false,
"transcript": "ENST00000884460.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 422,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1269,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164194.2",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.817_819delGGCinsTGT",
"hgvs_p": "p.Gly273Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157666.1",
"strand": false,
"transcript": "NM_001164194.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 422,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1269,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592528.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.817_819delGGCinsTGT",
"hgvs_p": "p.Gly273Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467803.1",
"strand": false,
"transcript": "ENST00000592528.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
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"aa_length": 422,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1269,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958163.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.817_819delGGCinsTGT",
"hgvs_p": "p.Gly273Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628222.1",
"strand": false,
"transcript": "ENST00000958163.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 391,
"aa_ref": "G",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1176,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884465.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.727_729delGGCinsTGT",
"hgvs_p": "p.Gly243Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554524.1",
"strand": false,
"transcript": "ENST00000884465.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 340,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1023,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884462.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.571_573delGGCinsTGT",
"hgvs_p": "p.Gly191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554521.1",
"strand": false,
"transcript": "ENST00000884462.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 339,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1020,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958156.1",
"gene_hgnc_id": 16893,
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