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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: 22-26484041-CCC-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26484041&ref=CCC&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SRRD",
"hgnc_id": 33910,
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001013694.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "HPS4",
"hgnc_id": 15844,
"hgvs_c": "c.-757_-755delGGGinsTGT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001349901.1",
"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": "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": "T",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1020,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001013694.3",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000215917.11",
"protein_coding": true,
"protein_id": "NP_001013716.2",
"strand": true,
"transcript": "NM_001013694.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1020,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000215917.11",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001013694.3",
"protein_coding": true,
"protein_id": "ENSP00000215917.6",
"strand": true,
"transcript": "ENST00000215917.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 160,
"cds_end": null,
"cds_length": 1098,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942937.1",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612996.1",
"strand": true,
"transcript": "ENST00000942937.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1047,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885114.1",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555173.1",
"strand": true,
"transcript": "ENST00000885114.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 317,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 162,
"cds_end": null,
"cds_length": 954,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942938.1",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612997.1",
"strand": true,
"transcript": "ENST00000942938.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 165,
"cds_end": null,
"cds_length": 924,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885115.1",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555174.1",
"strand": true,
"transcript": "ENST00000885115.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 226,
"aa_ref": "P",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 165,
"cds_end": null,
"cds_length": 681,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017028799.3",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.151_153delCCCinsACA",
"hgvs_p": "p.Pro51Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884288.1",
"strand": true,
"transcript": "XM_017028799.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011530178.3",
"gene_hgnc_id": 33910,
"gene_symbol": "SRRD",
"hgvs_c": "c.-109_-107delCCCinsACA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528480.1",
"strand": true,
"transcript": "XM_011530178.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439453.5",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "n.-757_-755delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000406764.1",
"strand": true,
"transcript": "ENST00000439453.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466781.5",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "n.-206_-204delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466781.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 726,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5109,
"cdna_start": null,
"cds_end": null,
"cds_length": 2181,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349901.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-757_-755delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336830.1",
"strand": true,
"transcript": "NM_001349901.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 726,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": null,
"cds_end": null,
"cds_length": 2181,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885020.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-848_-846delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555079.1",
"strand": true,
"transcript": "ENST00000885020.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 708,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5055,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349896.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-757_-755delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336825.1",
"strand": true,
"transcript": "NM_001349896.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 708,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336873.9",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-757_-755delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338457.5",
"strand": true,
"transcript": "ENST00000336873.9",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3971,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885018.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-885_-883delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555077.1",
"strand": true,
"transcript": "ENST00000885018.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 708,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885019.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-777_-775delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555078.1",
"strand": true,
"transcript": "ENST00000885019.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 708,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940090.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-710_-708delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610149.1",
"strand": true,
"transcript": "ENST00000940090.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940092.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-905_-903delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610151.1",
"strand": true,
"transcript": "ENST00000940092.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": null,
"cds_end": null,
"cds_length": 2043,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699251.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-757_-755delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514238.1",
"strand": true,
"transcript": "ENST00000699251.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699242.1",
"gene_hgnc_id": 15844,
"gene_symbol": "HPS4",
"hgvs_c": "c.-777_-775delGGGinsTGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514231.1",
"strand": true,
"transcript": "ENST00000699242.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699244.1",
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