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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: 19-5844638-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5844638&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5844638,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000589620.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000303225.12",
"protein_id": "ENSP00000305603.5",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000458379.7",
"protein_id": "ENSP00000416443.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000589620.6",
"protein_id": "ENSP00000465804.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000589918.5",
"protein_id": "ENSP00000468123.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_000149.4",
"protein_id": "NP_000140.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001097639.3",
"protein_id": "NP_001091108.3",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001097640.3",
"protein_id": "NP_001091109.3",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001097641.3",
"protein_id": "NP_001091110.3",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001374740.1",
"protein_id": "NP_001361669.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382744.1",
"protein_id": "NP_001369673.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382745.1",
"protein_id": "NP_001369674.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382746.1",
"protein_id": "NP_001369675.1",
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"aa_start": 68,
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"aa_length": 361,
"cds_start": 202,
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"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382747.1",
"protein_id": "NP_001369676.1",
"transcript_support_level": null,
"aa_start": 68,
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"aa_length": 361,
"cds_start": 202,
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"cdna_start": 464,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382748.2",
"protein_id": "NP_001369677.1",
"transcript_support_level": null,
"aa_start": 68,
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"cds_start": 202,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382749.2",
"protein_id": "NP_001369678.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 361,
"cds_start": 202,
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"cds_length": 1086,
"cdna_start": 433,
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"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "NM_001382750.2",
"protein_id": "NP_001369679.1",
"transcript_support_level": null,
"aa_start": 68,
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"cdna_start": 444,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000589714.1",
"protein_id": "ENSP00000467081.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 106,
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"cds_end": null,
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"cdna_start": 448,
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"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp",
"transcript": "ENST00000587048.1",
"protein_id": "ENSP00000468515.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 99,
"cds_start": 202,
"cds_end": null,
"cds_length": 300,
"cdna_start": 479,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.*69C>T",
"hgvs_p": null,
"transcript": "ENST00000585715.1",
"protein_id": "ENSP00000467633.1",
"transcript_support_level": 1,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 754,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"hgvs_c": "c.*188C>T",
"hgvs_p": null,
"transcript": "ENST00000587183.1",
"protein_id": "ENSP00000468795.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3,
"cds_start": -4,
"cds_end": null,
"cds_length": 14,
"cdna_start": null,
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"cdna_length": 599,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "FUT3",
"gene_hgnc_id": 4014,
"dbsnp": "rs812936",
"frequency_reference_population": 0.83048147,
"hom_count_reference_population": 546177,
"allele_count_reference_population": 1323819,
"gnomad_exomes_af": 0.829812,
"gnomad_genomes_af": 0.837016,
"gnomad_exomes_ac": 1199882,
"gnomad_genomes_ac": 123937,
"gnomad_exomes_homalt": 494194,
"gnomad_genomes_homalt": 51983,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002923836973423022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0167,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.038,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000589620.6",
"gene_symbol": "FUT3",
"hgnc_id": 4014,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}