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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: 22-50626234-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50626234&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARSA",
"hgnc_id": 713,
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Trp",
"inheritance_mode": "AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000487.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5524,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"chr": "22",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Metachromatic leukodystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9580704569816589,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4141,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1530,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
"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": "W",
"aa_end": null,
"aa_length": 505,
"aa_ref": "L",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1518,
"cds_start": 887,
"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.887T>G",
"hgvs_p": "p.Leu296Trp",
"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": "W",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1512,
"cds_start": 881,
"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.881T>G",
"hgvs_p": "p.Leu294Trp",
"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": "W",
"aa_end": null,
"aa_length": 499,
"aa_ref": "L",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1500,
"cds_start": 869,
"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.869T>G",
"hgvs_p": "p.Leu290Trp",
"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
},
{
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"aa_length": 491,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1476,
"cds_start": 899,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000861942.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.899T>G",
"hgvs_p": "p.Leu300Trp",
"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",
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},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
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"cds_end": null,
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"cds_start": 836,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000861936.1",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.836T>G",
"hgvs_p": "p.Leu279Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531995.1",
"strand": false,
"transcript": "ENST00000861936.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 482,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1449,
"cds_start": 818,
"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.818T>G",
"hgvs_p": "p.Leu273Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633508.1",
"strand": false,
"transcript": "ENST00000963449.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1066,
"cds_end": null,
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"cds_start": 680,
"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.680T>G",
"hgvs_p": "p.Leu227Trp",
"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": "W",
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"aa_length": 430,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1293,
"cds_start": 662,
"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.662T>G",
"hgvs_p": "p.Leu221Trp",
"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": "W",
"aa_end": null,
"aa_length": 423,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3904,
"cdna_start": 882,
"cds_end": null,
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"cds_start": 641,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001085428.3",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.641T>G",
"hgvs_p": "p.Leu214Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001078897.1",
"strand": false,
"transcript": "NM_001085428.3",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"cdna_end": null,
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"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.641T>G",
"hgvs_p": "p.Leu214Trp",
"intron_rank": null,
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"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": "W",
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 903,
"cds_end": null,
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"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
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"feature": "ENST00000453344.6",
"gene_hgnc_id": 713,
"gene_symbol": "ARSA",
"hgvs_c": "c.641T>G",
"hgvs_p": "p.Leu214Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412542.2",
"strand": false,
"transcript": "ENST00000453344.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
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"aa_length": 299,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 634,
"cds_end": null,
"cds_length": 900,
"cds_start": 269,
"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.269T>G",
"hgvs_p": "p.Leu90Trp",
"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": "W",
"aa_end": null,
"aa_length": 387,
"aa_ref": "L",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1164,
"cds_start": 899,
"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.899T>G",
"hgvs_p": "p.Leu300Trp",
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}