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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: 14-65629579-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65629579&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65629579,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000673929.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "NM_001371533.1",
"protein_id": "NP_001358462.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "ENST00000673929.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "ENST00000673929.1",
"protein_id": "ENSP00000501213.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": "NM_001371533.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "ENST00000360689.9",
"protein_id": "ENSP00000353910.5",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "ENST00000394586.6",
"protein_id": "ENSP00000378087.2",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.183G>A",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000358307.6",
"protein_id": "ENSP00000351057.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 446,
"cds_start": 183,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2664,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.570G>A",
"hgvs_p": null,
"transcript": "ENST00000342677.10",
"protein_id": "ENSP00000345865.6",
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "NM_001371536.1",
"protein_id": "NP_001358465.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "NM_001371534.1",
"protein_id": "NP_001358463.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "NM_178155.3",
"protein_id": "NP_835368.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "NM_178156.2",
"protein_id": "NP_835369.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "ENST00000674118.1",
"protein_id": "ENSP00000501008.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 460,
"cds_start": 570,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "NM_004480.4",
"protein_id": "NP_004471.4",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 412,
"cds_start": 81,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Leu27Leu",
"transcript": "ENST00000557164.5",
"protein_id": "ENSP00000452433.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 412,
"cds_start": 81,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "XM_017021138.2",
"protein_id": "XP_016876627.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "XM_047431177.1",
"protein_id": "XP_047287133.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "XM_047431178.1",
"protein_id": "XP_047287134.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "XM_047431179.1",
"protein_id": "XP_047287135.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Leu224Leu",
"transcript": "XM_047431180.1",
"protein_id": "XP_047287136.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 609,
"cds_start": 672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 12274,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu",
"transcript": "XM_047431181.1",
"protein_id": "XP_047287137.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 575,
"cds_start": 570,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 5230,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.2297G>A",
"hgvs_p": null,
"transcript": "NR_038167.1",
"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": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"dbsnp": "rs35137471",
"frequency_reference_population": 0.023685923,
"hom_count_reference_population": 909,
"allele_count_reference_population": 38208,
"gnomad_exomes_af": 0.0239772,
"gnomad_genomes_af": 0.0208905,
"gnomad_exomes_ac": 35028,
"gnomad_genomes_ac": 3180,
"gnomad_exomes_homalt": 840,
"gnomad_genomes_homalt": 69,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.298,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000673929.1",
"gene_symbol": "FUT8",
"hgnc_id": 4019,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Leu190Leu"
}
],
"clinvar_disease": "FUT8-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|FUT8-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}