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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: 3-16438051-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=16438051&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 16438051,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000334133.9",
"consequences": [
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "NM_015150.2",
"protein_id": "NP_055965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "ENST00000334133.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000334133.9",
"protein_id": "ENSP00000334153.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": "NM_015150.2",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.38-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000432519.5",
"protein_id": "ENSP00000403926.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000451036.5",
"protein_id": "ENSP00000403997.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000441460.5",
"protein_id": "ENSP00000388718.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 599,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000449415.5",
"protein_id": "ENSP00000409427.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000431547.1",
"protein_id": "ENSP00000393216.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "n.146-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000453536.5",
"protein_id": "ENSP00000410493.1",
"transcript_support_level": 5,
"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": 577,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "n.240-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000470458.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "n.168-4014G>A",
"hgvs_p": null,
"transcript": "ENST00000484752.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 513,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.251-4014G>A",
"hgvs_p": null,
"transcript": "XM_047447779.1",
"protein_id": "XP_047303735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3009,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_005264985.2",
"protein_id": "XP_005265042.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_005264986.3",
"protein_id": "XP_005265043.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 578,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_006713069.2",
"protein_id": "XP_006713132.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_011533530.2",
"protein_id": "XP_011531832.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 578,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_047447780.1",
"protein_id": "XP_047303736.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "RFTN1",
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"hgvs_c": "c.251-4014G>A",
"hgvs_p": null,
"transcript": "XM_047447781.1",
"protein_id": "XP_047303737.1",
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"aa_length": 460,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_017006007.3",
"protein_id": "XP_016861496.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2870,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null,
"transcript": "XM_047447783.1",
"protein_id": "XP_047303739.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2873,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "RFTN1",
"gene_hgnc_id": 30278,
"dbsnp": "rs9839841",
"frequency_reference_population": 0.18793637,
"hom_count_reference_population": 3001,
"allele_count_reference_population": 28587,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.187936,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 28587,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3001,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.387,
"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": -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": "ENST00000334133.9",
"gene_symbol": "RFTN1",
"hgnc_id": 30278,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146-4014G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}