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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: 22-50626271-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50626271&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50626271,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000487.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "NM_000487.6",
"protein_id": "NP_000478.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216124.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000487.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "ENST00000216124.10",
"protein_id": "ENSP00000216124.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000487.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216124.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "ENST00000356098.9",
"protein_id": "ENSP00000348406.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356098.9"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "NM_001085425.3",
"protein_id": "NP_001078894.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085425.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "NM_001085426.3",
"protein_id": "NP_001078895.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085426.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "NM_001085427.3",
"protein_id": "NP_001078896.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085427.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "ENST00000395619.3",
"protein_id": "ENSP00000378981.3",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395619.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "ENST00000395621.7",
"protein_id": "ENSP00000378983.3",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 509,
"cds_start": 862,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395621.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Thr284Ser",
"transcript": "ENST00000861937.1",
"protein_id": "ENSP00000531996.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 505,
"cds_start": 850,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861937.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Thr282Ser",
"transcript": "ENST00000861939.1",
"protein_id": "ENSP00000531998.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 503,
"cds_start": 844,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861939.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Thr278Ser",
"transcript": "ENST00000861943.1",
"protein_id": "ENSP00000532002.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 499,
"cds_start": 832,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861943.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "ENST00000861942.1",
"protein_id": "ENSP00000532001.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 491,
"cds_start": 862,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861942.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.799A>T",
"hgvs_p": "p.Thr267Ser",
"transcript": "ENST00000861936.1",
"protein_id": "ENSP00000531995.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 488,
"cds_start": 799,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861936.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.781A>T",
"hgvs_p": "p.Thr261Ser",
"transcript": "ENST00000963449.1",
"protein_id": "ENSP00000633508.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 482,
"cds_start": 781,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963449.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Thr215Ser",
"transcript": "ENST00000861938.1",
"protein_id": "ENSP00000531997.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 436,
"cds_start": 643,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861938.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.625A>T",
"hgvs_p": "p.Thr209Ser",
"transcript": "ENST00000861940.1",
"protein_id": "ENSP00000531999.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 430,
"cds_start": 625,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861940.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.604A>T",
"hgvs_p": "p.Thr202Ser",
"transcript": "NM_001085428.3",
"protein_id": "NP_001078897.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 423,
"cds_start": 604,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085428.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.604A>T",
"hgvs_p": "p.Thr202Ser",
"transcript": "NM_001362782.2",
"protein_id": "NP_001349711.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 423,
"cds_start": 604,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362782.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.604A>T",
"hgvs_p": "p.Thr202Ser",
"transcript": "ENST00000453344.6",
"protein_id": "ENSP00000412542.2",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 423,
"cds_start": 604,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453344.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.232A>T",
"hgvs_p": "p.Thr78Ser",
"transcript": "ENST00000861941.1",
"protein_id": "ENSP00000532000.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 299,
"cds_start": 232,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861941.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "XM_011530691.4",
"protein_id": "XP_011528993.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 387,
"cds_start": 862,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530691.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "XM_024452241.2",
"protein_id": "XP_024308009.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 387,
"cds_start": 862,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452241.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser",
"transcript": "XM_047441363.1",
"protein_id": "XP_047297319.1",
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"aa_start": 288,
"aa_end": null,
"aa_length": 387,
"cds_start": 862,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441363.1"
}
],
"gene_symbol": "ARSA",
"gene_hgnc_id": 713,
"dbsnp": "rs28940894",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48828762769699097,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.28,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000487.6",
"gene_symbol": "ARSA",
"hgnc_id": 713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.862A>T",
"hgvs_p": "p.Thr288Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}