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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: 6-125076756-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=125076756&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 125076756,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000521654.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.1381T>A",
"hgvs_p": "p.Phe461Ile",
"transcript": "NM_001286398.3",
"protein_id": "NP_001273327.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 11433,
"mane_select": "ENST00000521654.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.1381T>A",
"hgvs_p": "p.Phe461Ile",
"transcript": "ENST00000521654.7",
"protein_id": "ENSP00000428698.2",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 11433,
"mane_select": "NM_001286398.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.505T>A",
"hgvs_p": "p.Phe169Ile",
"transcript": "ENST00000359704.2",
"protein_id": "ENSP00000352734.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 275,
"cds_start": 505,
"cds_end": null,
"cds_length": 828,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"transcript": "ENST00000560949.5",
"protein_id": "ENSP00000452812.2",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 306,
"cds_start": 598,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.505T>A",
"hgvs_p": "p.Phe169Ile",
"transcript": "NM_152553.5",
"protein_id": "NP_689766.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 275,
"cds_start": 505,
"cds_end": null,
"cds_length": 828,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 10902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"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": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.67T>A",
"hgvs_p": "p.Phe23Ile",
"transcript": "ENST00000368414.6",
"protein_id": "ENSP00000357399.2",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 104,
"cds_start": 67,
"cds_end": null,
"cds_length": 315,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.1381T>A",
"hgvs_p": "p.Phe461Ile",
"transcript": "XM_011535494.3",
"protein_id": "XP_011533796.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 567,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.1147T>A",
"hgvs_p": "p.Phe383Ile",
"transcript": "XM_011535496.3",
"protein_id": "XP_011533798.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 489,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 11314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.1147T>A",
"hgvs_p": "p.Phe383Ile",
"transcript": "XM_047418241.1",
"protein_id": "XP_047274197.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 464,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 11199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.523T>A",
"hgvs_p": "p.Phe175Ile",
"transcript": "XM_011535500.2",
"protein_id": "XP_011533802.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 281,
"cds_start": 523,
"cds_end": null,
"cds_length": 846,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 10675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.505T>A",
"hgvs_p": "p.Phe169Ile",
"transcript": "XM_047418249.1",
"protein_id": "XP_047274205.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 275,
"cds_start": 505,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 11083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "c.505T>A",
"hgvs_p": "p.Phe169Ile",
"transcript": "XM_047418250.1",
"protein_id": "XP_047274206.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 275,
"cds_start": 505,
"cds_end": null,
"cds_length": 828,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 10564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.327T>A",
"hgvs_p": null,
"transcript": "ENST00000368415.2",
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.*374T>A",
"hgvs_p": null,
"transcript": "ENST00000432158.6",
"protein_id": "ENSP00000404282.2",
"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": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.*480T>A",
"hgvs_p": null,
"transcript": "ENST00000519565.5",
"protein_id": "ENSP00000429012.1",
"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": 10660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.734T>A",
"hgvs_p": null,
"transcript": "NR_104440.3",
"protein_id": null,
"transcript_support_level": null,
"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": 10678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.1502T>A",
"hgvs_p": null,
"transcript": "NR_136734.1",
"protein_id": null,
"transcript_support_level": null,
"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": 11447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.*374T>A",
"hgvs_p": null,
"transcript": "ENST00000432158.6",
"protein_id": "ENSP00000404282.2",
"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": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"hgvs_c": "n.*480T>A",
"hgvs_p": null,
"transcript": "ENST00000519565.5",
"protein_id": "ENSP00000429012.1",
"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": 10660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF217",
"gene_hgnc_id": 21487,
"dbsnp": "rs147762287",
"frequency_reference_population": 6.8434747e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84347e-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": 0.8255894184112549,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9032,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.608,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521654.7",
"gene_symbol": "RNF217",
"hgnc_id": 21487,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1381T>A",
"hgvs_p": "p.Phe461Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}