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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: 20-44621121-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44621121&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44621121,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372874.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"transcript": "NM_000022.4",
"protein_id": "NP_000013.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 363,
"cds_start": 872,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": "ENST00000372874.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"transcript": "ENST00000372874.9",
"protein_id": "ENSP00000361965.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 363,
"cds_start": 872,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": "NM_000022.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"transcript": "ENST00000537820.2",
"protein_id": "ENSP00000441818.1",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 339,
"cds_start": 800,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ser161Leu",
"transcript": "ENST00000695995.1",
"protein_id": "ENSP00000512318.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 233,
"cds_start": 482,
"cds_end": null,
"cds_length": 702,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"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": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ser137Leu",
"transcript": "ENST00000695991.1",
"protein_id": "ENSP00000512314.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 209,
"cds_start": 410,
"cds_end": null,
"cds_length": 630,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Ser9Leu",
"transcript": "ENST00000695956.1",
"protein_id": "ENSP00000512285.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 124,
"cds_start": 26,
"cds_end": null,
"cds_length": 375,
"cdna_start": 27,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*629C>T",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"transcript_support_level": null,
"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": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*629C>T",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"transcript_support_level": null,
"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": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ser314Leu",
"transcript": "ENST00000696076.1",
"protein_id": "ENSP00000512375.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 441,
"cds_start": 941,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Leu",
"transcript": "ENST00000696017.1",
"protein_id": "ENSP00000512333.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 417,
"cds_start": 869,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"transcript": "ENST00000696080.1",
"protein_id": "ENSP00000512379.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 400,
"cds_start": 872,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Leu",
"transcript": "ENST00000696079.1",
"protein_id": "ENSP00000512378.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 399,
"cds_start": 869,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Ser317Leu",
"transcript": "ENST00000695927.1",
"protein_id": "ENSP00000512270.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 389,
"cds_start": 950,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ser316Leu",
"transcript": "ENST00000696063.1",
"protein_id": "ENSP00000512366.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 388,
"cds_start": 947,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ser316Leu",
"transcript": "ENST00000696082.1",
"protein_id": "ENSP00000512380.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 388,
"cds_start": 947,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu",
"transcript": "ENST00000695993.1",
"protein_id": "ENSP00000512316.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 387,
"cds_start": 872,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Leu",
"transcript": "ENST00000696058.1",
"protein_id": "ENSP00000512361.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 386,
"cds_start": 869,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ser314Leu",
"transcript": "ENST00000696060.1",
"protein_id": "ENSP00000512363.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 386,
"cds_start": 941,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Ser312Leu",
"transcript": "ENST00000696062.1",
"protein_id": "ENSP00000512365.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 384,
"cds_start": 935,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Leu",
"transcript": "ENST00000696061.1",
"protein_id": "ENSP00000512364.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 362,
"cds_start": 869,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.869C>T",
"hgvs_p": "p.Ser290Leu",
"transcript": "ENST00000696078.1",
"protein_id": "ENSP00000512377.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 362,
"cds_start": 869,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Ser289Leu",
"transcript": "ENST00000696077.1",
"protein_id": "ENSP00000512376.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 361,
"cds_start": 866,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ser267Leu",
"transcript": "NM_001322051.2",
"protein_id": "NP_001308980.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 339,
"cds_start": 800,
"cds_end": null,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.958378791809082,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9148,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.571,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372874.9",
"gene_symbol": "ADA",
"hgnc_id": 186,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ser291Leu"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372887.5",
"gene_symbol": "PKIG",
"hgnc_id": 9019,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.152-2812G>A",
"hgvs_p": null
}
],
"clinvar_disease": " B cell-negative, NK cell-negative, T cell-negative, autosomal recessive, due to adenosine deaminase deficiency,Severe combined immunodeficiency,Severe combined immunodeficiency disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:3 O:1",
"phenotype_combined": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|not provided|Severe combined immunodeficiency disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}