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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: 1-163147479-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=163147479&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 163147479,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001414472.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Asp137Asn",
"transcript": "NM_003617.4",
"protein_id": "NP_003608.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 181,
"cds_start": 409,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313961.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003617.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Asp137Asn",
"transcript": "ENST00000313961.10",
"protein_id": "ENSP00000319308.5",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 181,
"cds_start": 409,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003617.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313961.10"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "ENST00000527988.1",
"protein_id": "ENSP00000432313.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527988.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Asp157Asn",
"transcript": "ENST00000367903.7",
"protein_id": "ENSP00000356879.3",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 201,
"cds_start": 469,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367903.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"transcript": "ENST00000950224.1",
"protein_id": "ENSP00000620283.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 192,
"cds_start": 442,
"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": "ENST00000950224.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "NM_001414472.1",
"protein_id": "NP_001401401.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 188,
"cds_start": 430,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414472.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "NM_001414473.1",
"protein_id": "NP_001401402.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 188,
"cds_start": 430,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414473.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "NM_001414474.1",
"protein_id": "NP_001401403.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 188,
"cds_start": 430,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414474.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "NM_001414475.1",
"protein_id": "NP_001401404.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 188,
"cds_start": 430,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414475.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Asp141Asn",
"transcript": "NM_001254749.2",
"protein_id": "NP_001241678.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 185,
"cds_start": 421,
"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": "NM_001254749.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Asp141Asn",
"transcript": "ENST00000530507.5",
"protein_id": "ENSP00000433001.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 185,
"cds_start": 421,
"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": "ENST00000530507.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Asp123Asn",
"transcript": "NM_001414476.1",
"protein_id": "NP_001401405.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 167,
"cds_start": 367,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414476.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "NM_001195303.3",
"protein_id": "NP_001182232.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195303.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "NM_001254748.2",
"protein_id": "NP_001241677.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254748.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "NM_001414477.1",
"protein_id": "NP_001401406.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414477.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "NM_001414478.1",
"protein_id": "NP_001401407.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414478.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "NM_001414479.1",
"protein_id": "NP_001401408.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414479.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Asp29Asn",
"transcript": "ENST00000618415.4",
"protein_id": "ENSP00000480891.1",
"transcript_support_level": 4,
"aa_start": 29,
"aa_end": null,
"aa_length": 73,
"cds_start": 85,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618415.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "n.576G>A",
"hgvs_p": null,
"transcript": "ENST00000531954.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000531954.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "n.167+5071G>A",
"hgvs_p": null,
"transcript": "ENST00000469495.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000469495.5"
}
],
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"dbsnp": "rs1315372347",
"frequency_reference_population": 0.000008091099,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000618738,
"gnomad_genomes_af": 0.0000262933,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19395041465759277,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.863,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001414472.1",
"gene_symbol": "RGS5",
"hgnc_id": 10001,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}