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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: 12-3583127-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=3583127&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 3583127,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019854.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "NM_019854.5",
"protein_id": "NP_062828.3",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 394,
"cds_start": 898,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382622.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019854.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000382622.4",
"protein_id": "ENSP00000372067.3",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 394,
"cds_start": 898,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019854.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382622.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"transcript": "ENST00000452611.6",
"protein_id": "ENSP00000414507.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 385,
"cds_start": 871,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452611.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Cys",
"transcript": "ENST00000927113.1",
"protein_id": "ENSP00000597172.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 419,
"cds_start": 973,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927113.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"transcript": "NM_001256536.1",
"protein_id": "NP_001243465.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 385,
"cds_start": 871,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256536.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Cys",
"transcript": "ENST00000969656.1",
"protein_id": "ENSP00000639715.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 373,
"cds_start": 835,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969656.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000969655.1",
"protein_id": "ENSP00000639714.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 369,
"cds_start": 823,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969655.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"transcript": "ENST00000890277.1",
"protein_id": "ENSP00000560336.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 332,
"cds_start": 712,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890277.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"transcript": "ENST00000927112.1",
"protein_id": "ENSP00000597171.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 317,
"cds_start": 667,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927112.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "XM_017019644.2",
"protein_id": "XP_016875133.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 369,
"cds_start": 823,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019644.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"transcript": "XM_017019645.1",
"protein_id": "XP_016875134.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 321,
"cds_start": 679,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019645.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Cys",
"transcript": "XM_047429159.1",
"protein_id": "XP_047285115.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 208,
"cds_start": 340,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429159.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "c.828+6141C>T",
"hgvs_p": null,
"transcript": "XM_047429157.1",
"protein_id": "XP_047285113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "n.1517C>T",
"hgvs_p": null,
"transcript": "ENST00000261252.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000261252.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"hgvs_c": "n.4824C>T",
"hgvs_p": null,
"transcript": "ENST00000543701.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543701.5"
}
],
"gene_symbol": "PRMT8",
"gene_hgnc_id": 5188,
"dbsnp": "rs1449179439",
"frequency_reference_population": 0.0000037176655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342051,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.876537561416626,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.705,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.985,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_019854.5",
"gene_symbol": "PRMT8",
"hgnc_id": 5188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}