← 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: 7-6387253-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6387253&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6387253,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006908.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "NM_006908.5",
"protein_id": "NP_008839.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 192,
"cds_start": 77,
"cds_end": null,
"cds_length": 579,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": "ENST00000348035.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "ENST00000348035.9",
"protein_id": "ENSP00000258737.7",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 192,
"cds_start": 77,
"cds_end": null,
"cds_length": 579,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": "NM_006908.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "ENST00000356142.4",
"protein_id": "ENSP00000348461.4",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 211,
"cds_start": 77,
"cds_end": null,
"cds_length": 636,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 907,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.308A>G",
"hgvs_p": null,
"transcript": "ENST00000488373.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "ENST00000704002.1",
"protein_id": "ENSP00000515615.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 225,
"cds_start": 77,
"cds_end": null,
"cds_length": 678,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "NM_018890.4",
"protein_id": "NP_061485.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 211,
"cds_start": 77,
"cds_end": null,
"cds_length": 636,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2366,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.265A>G",
"hgvs_p": null,
"transcript": "ENST00000696666.1",
"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": 5408,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000704003.1",
"protein_id": "ENSP00000515616.1",
"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": 2369,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000704003.1",
"protein_id": "ENSP00000515616.1",
"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": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"dbsnp": "rs1782949423",
"frequency_reference_population": 7.054425e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.05442e-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": 0.7987826466560364,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.188,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006908.5",
"gene_symbol": "RAC1",
"hgnc_id": 9801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}