← Back to variant description
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: 6-7404480-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7404480&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7404480,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031480.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.917A>C",
"hgvs_p": "p.Gln306Pro",
"transcript": "NM_031480.3",
"protein_id": "NP_113668.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 568,
"cds_start": 917,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379834.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031480.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.917A>C",
"hgvs_p": "p.Gln306Pro",
"transcript": "ENST00000379834.7",
"protein_id": "ENSP00000369162.2",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 568,
"cds_start": 917,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031480.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379834.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.1010A>C",
"hgvs_p": "p.Gln337Pro",
"transcript": "ENST00000967571.1",
"protein_id": "ENSP00000637630.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 599,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967571.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.1007A>C",
"hgvs_p": "p.Gln336Pro",
"transcript": "ENST00000911539.1",
"protein_id": "ENSP00000581598.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 598,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911539.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.932A>C",
"hgvs_p": "p.Gln311Pro",
"transcript": "ENST00000875537.1",
"protein_id": "ENSP00000545596.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 573,
"cds_start": 932,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875537.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.917A>C",
"hgvs_p": "p.Gln306Pro",
"transcript": "ENST00000875536.1",
"protein_id": "ENSP00000545595.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 568,
"cds_start": 917,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875536.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.917A>C",
"hgvs_p": "p.Gln306Pro",
"transcript": "ENST00000967569.1",
"protein_id": "ENSP00000637628.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 550,
"cds_start": 917,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967569.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.824A>C",
"hgvs_p": "p.Gln275Pro",
"transcript": "ENST00000967570.1",
"protein_id": "ENSP00000637629.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 537,
"cds_start": 824,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967570.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.764A>C",
"hgvs_p": "p.Gln255Pro",
"transcript": "ENST00000911540.1",
"protein_id": "ENSP00000581599.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 517,
"cds_start": 764,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911540.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Gln202Pro",
"transcript": "NM_001348194.2",
"protein_id": "NP_001335123.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 464,
"cds_start": 605,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348194.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "c.953A>C",
"hgvs_p": "p.Gln318Pro",
"transcript": "XM_011514933.4",
"protein_id": "XP_011513235.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 580,
"cds_start": 953,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514933.4"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "n.602A>C",
"hgvs_p": null,
"transcript": "ENST00000264874.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000264874.7"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"hgvs_c": "n.157A>C",
"hgvs_p": null,
"transcript": "ENST00000484626.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484626.1"
}
],
"gene_symbol": "RIOK1",
"gene_hgnc_id": 18656,
"dbsnp": "rs1761691891",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8841085433959961,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.75,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.018,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031480.3",
"gene_symbol": "RIOK1",
"hgnc_id": 18656,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.917A>C",
"hgvs_p": "p.Gln306Pro"
}
],
"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
}