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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: 11-18291798-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18291798&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18291798,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000349215.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_181507.2",
"protein_id": "NP_852608.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000349215.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "ENST00000349215.8",
"protein_id": "ENSP00000265967.5",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_181507.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Ser581Tyr",
"transcript": "ENST00000396253.7",
"protein_id": "ENSP00000379552.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Ser581Tyr",
"transcript": "ENST00000438420.6",
"protein_id": "ENSP00000399590.2",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440902.1",
"protein_id": "NP_001427831.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440903.1",
"protein_id": "NP_001427832.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440904.1",
"protein_id": "NP_001427833.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440905.1",
"protein_id": "NP_001427834.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440906.1",
"protein_id": "NP_001427835.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2084,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2009C>A",
"hgvs_p": "p.Ser670Tyr",
"transcript": "NM_001440907.1",
"protein_id": "NP_001427836.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2009,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2009C>A",
"hgvs_p": "p.Ser670Tyr",
"transcript": "NM_001440908.1",
"protein_id": "NP_001427837.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2009,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2009C>A",
"hgvs_p": "p.Ser670Tyr",
"transcript": "NM_001440909.1",
"protein_id": "NP_001427838.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2009,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1973C>A",
"hgvs_p": "p.Ser658Tyr",
"transcript": "NM_001440913.1",
"protein_id": "NP_001427842.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1973,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1973C>A",
"hgvs_p": "p.Ser658Tyr",
"transcript": "NM_001440914.1",
"protein_id": "NP_001427843.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
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"cds_start": 1973,
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"cdna_start": 2086,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1973C>A",
"hgvs_p": "p.Ser658Tyr",
"transcript": "NM_001440915.1",
"protein_id": "NP_001427844.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1973,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440916.1",
"protein_id": "NP_001427845.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr",
"transcript": "NM_001440917.1",
"protein_id": "NP_001427846.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2084,
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"cds_length": 3234,
"cdna_start": 2141,
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"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1898C>A",
"hgvs_p": "p.Ser633Tyr",
"transcript": "NM_001440918.1",
"protein_id": "NP_001427847.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2333,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Ser624Tyr",
"transcript": "NM_001440919.1",
"protein_id": "NP_001427848.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
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"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Ser581Tyr",
"transcript": "NM_001440920.1",
"protein_id": "NP_001427849.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1742,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Ser581Tyr",
"transcript": "NM_001440921.1",
"protein_id": "NP_001427850.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1742,
"cds_end": null,
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"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1742C>A",
"hgvs_p": "p.Ser581Tyr",
"transcript": "NM_001440922.1",
"protein_id": "NP_001427851.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000349215.8",
"gene_symbol": "HPS5",
"hgnc_id": 17022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2084C>A",
"hgvs_p": "p.Ser695Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}