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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: 18-57550733-GAA-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57550733&ref=GAA&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FECH",
"hgnc_id": 3647,
"hgvs_c": "c.1267_1269delTTCinsAGT",
"hgvs_p": "p.Phe423Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001012515.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "F",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7689,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000140.5",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1249_1251delTTCinsAGT",
"hgvs_p": "p.Phe417Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262093.11",
"protein_coding": true,
"protein_id": "NP_000131.2",
"strand": false,
"transcript": "NM_000140.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "F",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7689,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262093.11",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1249_1251delTTCinsAGT",
"hgvs_p": "p.Phe417Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000140.5",
"protein_coding": true,
"protein_id": "ENSP00000262093.6",
"strand": false,
"transcript": "ENST00000262093.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 429,
"aa_ref": "F",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7707,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001012515.4",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1267_1269delTTCinsAGT",
"hgvs_p": "p.Phe423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001012533.1",
"strand": false,
"transcript": "NM_001012515.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 429,
"aa_ref": "F",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7695,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652755.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1267_1269delTTCinsAGT",
"hgvs_p": "p.Phe423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498358.1",
"strand": false,
"transcript": "ENST00000652755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "F",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7629,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374778.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1189_1191delTTCinsAGT",
"hgvs_p": "p.Phe397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361707.1",
"strand": false,
"transcript": "NM_001374778.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "F",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878110.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1189_1191delTTCinsAGT",
"hgvs_p": "p.Phe397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548169.1",
"strand": false,
"transcript": "ENST00000878110.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "F",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932840.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1168_1170delTTCinsAGT",
"hgvs_p": "p.Phe390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602899.1",
"strand": false,
"transcript": "ENST00000932840.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 390,
"aa_ref": "F",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7590,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371094.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1150_1152delTTCinsAGT",
"hgvs_p": "p.Phe384Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358023.1",
"strand": false,
"transcript": "NM_001371094.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 383,
"aa_ref": "F",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878112.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1129_1131delTTCinsAGT",
"hgvs_p": "p.Phe377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548171.1",
"strand": false,
"transcript": "ENST00000878112.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "F",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1107,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878111.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1084_1086delTTCinsAGT",
"hgvs_p": "p.Phe362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548170.1",
"strand": false,
"transcript": "ENST00000878111.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "F",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7799,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1056,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371095.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1033_1035delTTCinsAGT",
"hgvs_p": "p.Phe345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358024.1",
"strand": false,
"transcript": "NM_001371095.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "F",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1056,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382873.8",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1033_1035delTTCinsAGT",
"hgvs_p": "p.Phe345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372326.4",
"strand": false,
"transcript": "ENST00000382873.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "F",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972075.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1015_1017delTTCinsAGT",
"hgvs_p": "p.Phe339Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642134.1",
"strand": false,
"transcript": "ENST00000972075.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 335,
"aa_ref": "F",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1008,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972076.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.985_987delTTCinsAGT",
"hgvs_p": "p.Phe329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642135.1",
"strand": false,
"transcript": "ENST00000972076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "F",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7608,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525881.2",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "c.1168_1170delTTCinsAGT",
"hgvs_p": "p.Phe390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524183.1",
"strand": false,
"transcript": "XM_011525881.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000585494.5",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "n.*976_*978delTTCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465243.1",
"strand": false,
"transcript": "ENST00000585494.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000651787.1",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "n.1355_1357delTTCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000651787.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000585494.5",
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"hgvs_c": "n.*976_*978delTTCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465243.1",
"strand": false,
"transcript": "ENST00000585494.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3647,
"gene_symbol": "FECH",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.917,
"pos": 57550733,
"ref": "GAA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001012515.4"
}
]
}