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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: 7-5064183-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5064183&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5064183,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021163.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "NM_021163.4",
"protein_id": "NP_066986.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": "ENST00000396912.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021163.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000396912.2",
"protein_id": "ENSP00000380120.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": "NM_021163.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RBAK-RBAKDN",
"gene_hgnc_id": 42971,
"hgvs_c": "c.299+428A>G",
"hgvs_p": null,
"transcript": "ENST00000407184.5",
"protein_id": "ENSP00000385560.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407184.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "NM_001204456.2",
"protein_id": "NP_001191385.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204456.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000353796.7",
"protein_id": "ENSP00000275423.4",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353796.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000897998.1",
"protein_id": "ENSP00000568057.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897998.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000919280.1",
"protein_id": "ENSP00000589339.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 6185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919280.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000919281.1",
"protein_id": "ENSP00000589340.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919281.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000919282.1",
"protein_id": "ENSP00000589341.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 6080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919282.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000945090.1",
"protein_id": "ENSP00000615149.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945090.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000945091.1",
"protein_id": "ENSP00000615150.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945091.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBAK",
"gene_hgnc_id": 17680,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val",
"transcript": "ENST00000945092.1",
"protein_id": "ENSP00000615151.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 714,
"cds_start": 727,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945092.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBAK-RBAKDN",
"gene_hgnc_id": 42971,
"hgvs_c": "c.238+6404A>G",
"hgvs_p": null,
"transcript": "NM_001204513.3",
"protein_id": "NP_001191442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204513.3"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBAK-RBAKDN",
"gene_hgnc_id": 42971,
"hgvs_c": "c.238+6404A>G",
"hgvs_p": null,
"transcript": "ENST00000396904.2",
"protein_id": "ENSP00000380112.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396904.2"
}
],
"gene_symbol": "RBAK",
"gene_hgnc_id": 17680,
"dbsnp": "rs200370611",
"frequency_reference_population": 6.8416955e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8417e-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": 0.0672023594379425,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.617,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021163.4",
"gene_symbol": "RBAK",
"hgnc_id": 17680,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Ile243Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001204513.3",
"gene_symbol": "RBAK-RBAKDN",
"hgnc_id": 42971,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.238+6404A>G",
"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
}