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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: 22-50626231-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50626231&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARSA",
"hgnc_id": 713,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000487.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3",
"acmg_score": 8,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.1759,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Metachromatic leukodystrophy",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7966907024383545,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000487.6",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000216124.10",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356098.9",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001085425.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001085426.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001085427.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395619.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1530,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395621.7",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"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": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1518,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861937.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"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": "Q",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1512,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861939.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"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": "Q",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1500,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861943.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291Gln",
"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": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1476,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861942.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532001.1",
"strand": false,
"transcript": "ENST00000861942.1",
"transcript_support_level": null
},
{
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"aa_length": 488,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1467,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861936.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"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": "Q",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1449,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963449.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"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": "Q",
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"aa_length": 436,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1311,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861938.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"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": "Q",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1293,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861940.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Gln",
"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": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1272,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001085428.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"intron_rank": null,
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"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": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1272,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001362782.2",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"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
},
{
"aa_alt": "Q",
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"aa_length": 423,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1272,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000453344.6",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412542.2",
"strand": false,
"transcript": "ENST00000453344.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 637,
"cds_end": null,
"cds_length": 900,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000861941.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532000.1",
"strand": false,
"transcript": "ENST00000861941.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1164,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011530691.4",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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