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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: 22-50625443-GTGGTATCAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50625443&ref=GTGGTATCAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM4",
"PP5_Very_Strong"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "ARSA",
"hgnc_id": 713,
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000487.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM4,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Metachromatic leukodystrophy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000487.6",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216124.10",
"protein_coding": true,
"protein_id": "NP_000478.3",
"strand": false,
"transcript": "NM_000487.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000216124.10",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000487.6",
"protein_coding": true,
"protein_id": "ENSP00000216124.5",
"strand": false,
"transcript": "ENST00000216124.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000356098.9",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348406.5",
"strand": false,
"transcript": "ENST00000356098.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 387,
"aa_ref": "VIP",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1120,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011530691.4",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1120_1128delGTGATACCA",
"hgvs_p": "p.Val374_Pro376del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528993.1",
"strand": false,
"transcript": "XM_011530691.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 387,
"aa_ref": "VIP",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1120,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024452241.2",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1120_1128delGTGATACCA",
"hgvs_p": "p.Val374_Pro376del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308009.1",
"strand": false,
"transcript": "XM_024452241.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 387,
"aa_ref": "VIP",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1120,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441363.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1120_1128delGTGATACCA",
"hgvs_p": "p.Val374_Pro376del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297319.1",
"strand": false,
"transcript": "XM_047441363.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001085425.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001078894.2",
"strand": false,
"transcript": "NM_001085425.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001085426.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001078895.2",
"strand": false,
"transcript": "NM_001085426.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001085427.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001078896.2",
"strand": false,
"transcript": "NM_001085427.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000395619.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378981.3",
"strand": false,
"transcript": "ENST00000395619.3",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "SDTT",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1223,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000395621.7",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1223_1231delGTGATACCA",
"hgvs_p": "p.Ser408_Thr410del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378983.3",
"strand": false,
"transcript": "ENST00000395621.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 505,
"aa_ref": "SDTT",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1211,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861937.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1211_1219delGTGATACCA",
"hgvs_p": "p.Ser404_Thr406del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531996.1",
"strand": false,
"transcript": "ENST00000861937.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "SDTT",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1205,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861939.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1205_1213delGTGATACCA",
"hgvs_p": "p.Ser402_Thr404del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531998.1",
"strand": false,
"transcript": "ENST00000861939.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "SDTT",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1193,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861943.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1193_1201delGTGATACCA",
"hgvs_p": "p.Ser398_Thr400del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532002.1",
"strand": false,
"transcript": "ENST00000861943.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "SDTT",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1160,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861936.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1160_1168delGTGATACCA",
"hgvs_p": "p.Ser387_Thr389del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531995.1",
"strand": false,
"transcript": "ENST00000861936.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 482,
"aa_ref": "SDTT",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1142,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000963449.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1142_1150delGTGATACCA",
"hgvs_p": "p.Ser381_Thr383del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633508.1",
"strand": false,
"transcript": "ENST00000963449.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 436,
"aa_ref": "SDTT",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1004,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861938.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.1004_1012delGTGATACCA",
"hgvs_p": "p.Ser335_Thr337del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531997.1",
"strand": false,
"transcript": "ENST00000861938.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 430,
"aa_ref": "SDTT",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1293,
"cds_start": 986,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861940.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.986_994delGTGATACCA",
"hgvs_p": "p.Ser329_Thr331del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531999.1",
"strand": false,
"transcript": "ENST00000861940.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "SDTT",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1272,
"cds_start": 965,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001085428.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.965_973delGTGATACCA",
"hgvs_p": "p.Ser322_Thr324del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001078897.1",
"strand": false,
"transcript": "NM_001085428.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "SDTT",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1272,
"cds_start": 965,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001362782.2",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.965_973delGTGATACCA",
"hgvs_p": "p.Ser322_Thr324del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349711.1",
"strand": false,
"transcript": "NM_001362782.2",
"transcript_support_level": null
},
{
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]
}