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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: 13-100302982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100302982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100302982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000376285.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 728,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 728,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 710,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Pro397Leu",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 702,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Pro397Leu",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 702,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "NM_001178004.2",
"protein_id": "NP_001171475.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 681,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "ENST00000376279.7",
"protein_id": "ENSP00000365456.3",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 681,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Pro375Leu",
"transcript": "NM_001352606.2",
"protein_id": "NP_001339535.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 680,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Pro397Leu",
"transcript": "NM_001352607.2",
"protein_id": "NP_001339536.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 655,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Pro349Leu",
"transcript": "NM_001352608.2",
"protein_id": "NP_001339537.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 654,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "NM_001352609.2",
"protein_id": "NP_001339538.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 640,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "NM_001352610.2",
"protein_id": "NP_001339539.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 413,
"cds_start": 323,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "NM_001352611.2",
"protein_id": "NP_001339540.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 395,
"cds_start": 323,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Pro60Leu",
"transcript": "NM_001352612.2",
"protein_id": "NP_001339541.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 365,
"cds_start": 179,
"cds_end": null,
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"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "XM_017020605.2",
"protein_id": "XP_016876094.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 744,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Pro397Leu",
"transcript": "XM_017020606.2",
"protein_id": "XP_016876095.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 718,
"cds_start": 1190,
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"cdna_start": 1218,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1169C>T",
"hgvs_p": "p.Pro390Leu",
"transcript": "XM_017020607.2",
"protein_id": "XP_016876096.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 711,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "XM_011521093.2",
"protein_id": "XP_011519395.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 699,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1169C>T",
"hgvs_p": "p.Pro390Leu",
"transcript": "XM_017020609.2",
"protein_id": "XP_016876098.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
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"cds_start": 1169,
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"cdna_start": 2336,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1103C>T",
"hgvs_p": "p.Pro368Leu",
"transcript": "XM_047430370.1",
"protein_id": "XP_047286326.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 689,
"cds_start": 1103,
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"cdna_start": 1637,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Pro397Leu",
"transcript": "XM_047430371.1",
"protein_id": "XP_047286327.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 684,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu",
"transcript": "XM_017020611.2",
"protein_id": "XP_016876100.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 683,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1268C>T",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000376285.6",
"gene_symbol": "PCCA",
"hgnc_id": 8653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1268C>T",
"hgvs_p": "p.Pro423Leu"
}
],
"clinvar_disease": "Propionic acidemia",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}