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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: 22-40354266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40354266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40354266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000026.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_000026.4",
"protein_id": "NP_000017.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 484,
"cds_start": 421,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "ENST00000623063.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000623063.3",
"protein_id": "ENSP00000485525.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 484,
"cds_start": 421,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "NM_000026.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000342312.9",
"protein_id": "ENSP00000341429.6",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 425,
"cds_start": 421,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.421C>T",
"hgvs_p": null,
"transcript": "ENST00000480775.3",
"protein_id": "ENSP00000485462.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*178+4231C>T",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.-120C>T",
"hgvs_p": null,
"transcript": "ENST00000623978.3",
"protein_id": "ENSP00000485477.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001410812.1",
"protein_id": "NP_001397741.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 526,
"cds_start": 421,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000680978.1",
"protein_id": "ENSP00000505244.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 526,
"cds_start": 421,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Trp",
"transcript": "ENST00000680378.1",
"protein_id": "ENSP00000505556.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 513,
"cds_start": 508,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Arg155Trp",
"transcript": "ENST00000216194.11",
"protein_id": "ENSP00000216194.8",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 498,
"cds_start": 463,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000625194.4",
"protein_id": "ENSP00000485289.2",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 498,
"cds_start": 421,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001363840.3",
"protein_id": "NP_001350769.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 480,
"cds_start": 421,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000636714.1",
"protein_id": "ENSP00000490946.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 480,
"cds_start": 421,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_001410814.1",
"protein_id": "NP_001397743.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 469,
"cds_start": 376,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000679723.1",
"protein_id": "ENSP00000505155.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 469,
"cds_start": 376,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001410816.1",
"protein_id": "NP_001397745.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 467,
"cds_start": 421,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000637666.2",
"protein_id": "ENSP00000489696.2",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 467,
"cds_start": 421,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "NM_001123378.3",
"protein_id": "NP_001116850.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 425,
"cds_start": 421,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"transcript": "NM_001317923.2",
"protein_id": "NP_001304852.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 420,
"cds_start": 229,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000636265.1",
"protein_id": "ENSP00000490909.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 402,
"cds_start": 421,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Trp",
"transcript": "ENST00000623632.4",
"protein_id": "ENSP00000485288.2",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 381,
"cds_start": 421,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "XM_017028636.2",
"protein_id": "XP_016884125.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 511,
"cds_start": 376,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.113C>T",
"hgvs_p": null,
"transcript": "ENST00000636124.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.802,
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"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
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{
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"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
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"PM5",
"PP3_Strong",
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"verdict": "Pathogenic",
"transcript": "NM_000026.4",
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"effects": [
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"inheritance_mode": "AR",
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{
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"gene_symbol": "ENSG00000284431",
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],
"clinvar_disease": "Adenylosuccinate lyase deficiency,Difficulty standing,Generalized myoclonic seizure,Inability to walk,Progressive neurologic deterioration,Severe global developmental delay,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "Severe global developmental delay;Generalized myoclonic seizure;Progressive neurologic deterioration;Inability to walk;Difficulty standing|not provided|Adenylosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}