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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: 12-110486558-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110486558&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110486558,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013300.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "NM_013300.3",
"protein_id": "NP_037432.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 273,
"cds_start": 461,
"cds_end": null,
"cds_length": 822,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": "ENST00000377673.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013300.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000377673.10",
"protein_id": "ENSP00000366901.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 273,
"cds_start": 461,
"cds_end": null,
"cds_length": 822,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": "NM_013300.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377673.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "n.922G>T",
"hgvs_p": null,
"transcript": "ENST00000538285.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000538285.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "n.*105G>T",
"hgvs_p": null,
"transcript": "ENST00000548449.1",
"protein_id": "ENSP00000448777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000548449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "n.*105G>T",
"hgvs_p": null,
"transcript": "ENST00000548449.1",
"protein_id": "ENSP00000448777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000548449.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000919019.1",
"protein_id": "ENSP00000589078.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 273,
"cds_start": 461,
"cds_end": null,
"cds_length": 822,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919019.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000919020.1",
"protein_id": "ENSP00000589079.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 273,
"cds_start": 461,
"cds_end": null,
"cds_length": 822,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919020.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000919021.1",
"protein_id": "ENSP00000589080.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 273,
"cds_start": 461,
"cds_end": null,
"cds_length": 822,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919021.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.455G>T",
"hgvs_p": "p.Arg152Leu",
"transcript": "ENST00000896506.1",
"protein_id": "ENSP00000566565.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 271,
"cds_start": 455,
"cds_end": null,
"cds_length": 816,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896506.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000896507.1",
"protein_id": "ENSP00000566566.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 270,
"cds_start": 461,
"cds_end": null,
"cds_length": 813,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896507.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Arg115Leu",
"transcript": "XM_011538246.4",
"protein_id": "XP_011536548.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 234,
"cds_start": 344,
"cds_end": null,
"cds_length": 705,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538246.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.179G>T",
"hgvs_p": "p.Arg60Leu",
"transcript": "XM_005253875.6",
"protein_id": "XP_005253932.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 179,
"cds_start": 179,
"cds_end": null,
"cds_length": 540,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253875.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.179G>T",
"hgvs_p": "p.Arg60Leu",
"transcript": "XM_024448959.2",
"protein_id": "XP_024304727.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 179,
"cds_start": 179,
"cds_end": null,
"cds_length": 540,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448959.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.144-1303G>T",
"hgvs_p": null,
"transcript": "ENST00000919022.1",
"protein_id": "ENSP00000589081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "c.185-3461G>T",
"hgvs_p": null,
"transcript": "ENST00000896505.1",
"protein_id": "ENSP00000566564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "n.183G>T",
"hgvs_p": null,
"transcript": "ENST00000546396.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000546396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"hgvs_c": "n.420G>T",
"hgvs_p": null,
"transcript": "ENST00000548869.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548869.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903016",
"gene_hgnc_id": null,
"hgvs_c": "n.385+2351C>A",
"hgvs_p": null,
"transcript": "XR_007063459.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063459.1"
}
],
"gene_symbol": "FAM216A",
"gene_hgnc_id": 30180,
"dbsnp": "rs146368046",
"frequency_reference_population": 0.0000012394461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84207e-7,
"gnomad_genomes_af": 0.00000657557,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14604589343070984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1689,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.634,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013300.3",
"gene_symbol": "FAM216A",
"hgnc_id": 30180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063459.1",
"gene_symbol": "LOC124903016",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.385+2351C>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
}