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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: 7-6402337-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6402337&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6402337,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018890.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.470G>C",
"hgvs_p": "p.Cys157Ser",
"transcript": "NM_006908.5",
"protein_id": "NP_008839.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 192,
"cds_start": 470,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348035.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006908.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.470G>C",
"hgvs_p": "p.Cys157Ser",
"transcript": "ENST00000348035.9",
"protein_id": "ENSP00000258737.7",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 192,
"cds_start": 470,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006908.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348035.9"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Cys176Ser",
"transcript": "ENST00000356142.4",
"protein_id": "ENSP00000348461.4",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 211,
"cds_start": 527,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356142.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.701G>C",
"hgvs_p": null,
"transcript": "ENST00000488373.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000488373.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Cys190Ser",
"transcript": "ENST00000704002.1",
"protein_id": "ENSP00000515615.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 225,
"cds_start": 569,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704002.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.551G>C",
"hgvs_p": "p.Cys184Ser",
"transcript": "ENST00000925119.1",
"protein_id": "ENSP00000595178.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 219,
"cds_start": 551,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925119.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Cys179Ser",
"transcript": "ENST00000887277.1",
"protein_id": "ENSP00000557336.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 214,
"cds_start": 536,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887277.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Cys176Ser",
"transcript": "NM_018890.4",
"protein_id": "NP_061485.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 211,
"cds_start": 527,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018890.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.506G>C",
"hgvs_p": "p.Cys169Ser",
"transcript": "ENST00000887276.1",
"protein_id": "ENSP00000557335.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 204,
"cds_start": 506,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887276.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.470G>C",
"hgvs_p": "p.Cys157Ser",
"transcript": "ENST00000966157.1",
"protein_id": "ENSP00000636216.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 192,
"cds_start": 470,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966157.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.449G>C",
"hgvs_p": "p.Cys150Ser",
"transcript": "ENST00000887274.1",
"protein_id": "ENSP00000557333.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 185,
"cds_start": 449,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887274.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Cys136Ser",
"transcript": "ENST00000966158.1",
"protein_id": "ENSP00000636217.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 171,
"cds_start": 407,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966158.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.398G>C",
"hgvs_p": "p.Cys133Ser",
"transcript": "ENST00000887275.1",
"protein_id": "ENSP00000557334.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 168,
"cds_start": 398,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887275.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "c.335G>C",
"hgvs_p": "p.Cys112Ser",
"transcript": "ENST00000887278.1",
"protein_id": "ENSP00000557337.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 147,
"cds_start": 335,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887278.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.548G>C",
"hgvs_p": null,
"transcript": "ENST00000473564.1",
"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": "ENST00000473564.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.432G>C",
"hgvs_p": null,
"transcript": "ENST00000495499.1",
"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": "ENST00000495499.1"
},
{
"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": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "ENST00000497741.5",
"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": "pseudogene",
"feature": "ENST00000497741.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.*423G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"hgvs_c": "n.*423G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704003.1"
}
],
"gene_symbol": "RAC1",
"gene_hgnc_id": 9801,
"dbsnp": "rs1554264268",
"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": 0.9241215586662292,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.868,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_018890.4",
"gene_symbol": "RAC1",
"hgnc_id": 9801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Cys176Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}