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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: 6-32181363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32181363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32181363,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000375076.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"transcript": "NM_001136.5",
"protein_id": "NP_001127.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 404,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": "ENST00000375076.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln",
"transcript": "ENST00000375076.9",
"protein_id": "ENSP00000364217.4",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 404,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": "NM_001136.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"transcript": "ENST00000375069.7",
"protein_id": "ENSP00000364210.4",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 420,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Pro317Pro",
"transcript": "ENST00000375067.7",
"protein_id": "ENSP00000364208.3",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 342,
"cds_start": 951,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.648G>A",
"hgvs_p": null,
"transcript": "ENST00000473619.5",
"protein_id": null,
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.1313G>A",
"hgvs_p": null,
"transcript": "ENST00000484849.5",
"protein_id": null,
"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": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*30-124G>A",
"hgvs_p": null,
"transcript": "ENST00000438221.6",
"protein_id": "ENSP00000387887.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*30-124G>A",
"hgvs_p": null,
"transcript": "ENST00000375055.6",
"protein_id": "ENSP00000364195.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.616-124G>A",
"hgvs_p": null,
"transcript": "ENST00000488669.5",
"protein_id": null,
"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": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"transcript": "NM_001206929.2",
"protein_id": "NP_001193858.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 420,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "NM_001206932.2",
"protein_id": "NP_001193861.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 390,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259Gln",
"transcript": "ENST00000375070.7",
"protein_id": "ENSP00000364211.4",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 294,
"cds_start": 776,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Pro317Pro",
"transcript": "NM_172197.3",
"protein_id": "NP_751947.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 342,
"cds_start": 951,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.273G>A",
"hgvs_p": null,
"transcript": "ENST00000469940.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.1320G>A",
"hgvs_p": null,
"transcript": "NR_038190.2",
"protein_id": null,
"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": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "XM_047418260.1",
"protein_id": "XP_047274216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*82G>A",
"hgvs_p": null,
"transcript": "XM_047418261.1",
"protein_id": "XP_047274217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*30-124G>A",
"hgvs_p": null,
"transcript": "NM_001206934.2",
"protein_id": "NP_001193863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.1022-124G>A",
"hgvs_p": null,
"transcript": "NM_001206936.2",
"protein_id": "NP_001193865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*30-124G>A",
"hgvs_p": null,
"transcript": "NM_001206940.2",
"protein_id": "NP_001193869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.*29+161G>A",
"hgvs_p": null,
"transcript": "NM_001206966.2",
"protein_id": "NP_001193895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.932-124G>A",
"hgvs_p": null,
"transcript": "NM_001206954.2",
"protein_id": "NP_001193883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.980-124G>A",
"hgvs_p": null,
"transcript": "XM_017010328.3",
"protein_id": "XP_016865817.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"dbsnp": "rs3176931",
"frequency_reference_population": 0.0034613318,
"hom_count_reference_population": 117,
"allele_count_reference_population": 5582,
"gnomad_exomes_af": 0.00346776,
"gnomad_genomes_af": 0.00339975,
"gnomad_exomes_ac": 5064,
"gnomad_genomes_ac": 518,
"gnomad_exomes_homalt": 96,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0021304190158843994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.4,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000375076.9",
"gene_symbol": "AGER",
"hgnc_id": 320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}