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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: 1-185100265-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=185100265&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 185100265,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007212.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "NM_007212.4",
"protein_id": "NP_009143.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007212.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000367510.8",
"protein_id": "ENSP00000356480.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007212.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367510.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Met334Ile",
"transcript": "ENST00000942958.1",
"protein_id": "ENSP00000613017.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 345,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942958.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000715230.1",
"protein_id": "ENSP00000520426.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715230.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000910311.1",
"protein_id": "ENSP00000580370.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910311.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000910312.1",
"protein_id": "ENSP00000580371.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910312.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000910315.1",
"protein_id": "ENSP00000580374.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910315.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000925210.1",
"protein_id": "ENSP00000595269.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925210.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "ENST00000942959.1",
"protein_id": "ENSP00000613018.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942959.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Met324Ile",
"transcript": "ENST00000925207.1",
"protein_id": "ENSP00000595266.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 335,
"cds_start": 972,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925207.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Met253Ile",
"transcript": "ENST00000367509.8",
"protein_id": "ENSP00000356479.4",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 264,
"cds_start": 759,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367509.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Met253Ile",
"transcript": "ENST00000910314.1",
"protein_id": "ENSP00000580373.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 264,
"cds_start": 759,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910314.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Met253Ile",
"transcript": "ENST00000925209.1",
"protein_id": "ENSP00000595268.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 264,
"cds_start": 759,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925209.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Met234Ile",
"transcript": "ENST00000910313.1",
"protein_id": "ENSP00000580372.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 245,
"cds_start": 702,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910313.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.486G>A",
"hgvs_p": "p.Met162Ile",
"transcript": "ENST00000925208.1",
"protein_id": "ENSP00000595267.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 173,
"cds_start": 486,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925208.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "XM_011509851.4",
"protein_id": "XP_011508153.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509851.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile",
"transcript": "XM_011509852.3",
"protein_id": "XP_011508154.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 336,
"cds_start": 975,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509852.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"hgvs_c": "c.828G>A",
"hgvs_p": "p.Met276Ile",
"transcript": "XM_005245413.4",
"protein_id": "XP_005245470.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 287,
"cds_start": 828,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245413.4"
}
],
"gene_symbol": "RNF2",
"gene_hgnc_id": 10061,
"dbsnp": "rs111816430",
"frequency_reference_population": 6.849831e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84983e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7686346769332886,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.401,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007212.4",
"gene_symbol": "RNF2",
"hgnc_id": 10061,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.975G>A",
"hgvs_p": "p.Met325Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}