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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: 12-12661329-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12661329&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 12661329,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006143.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "NM_006143.3",
"protein_id": "NP_006134.2",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651487.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006143.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000651487.1",
"protein_id": "ENSP00000498976.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006143.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651487.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000332427.6",
"protein_id": "ENSP00000333744.2",
"transcript_support_level": 4,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332427.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000540510.1",
"protein_id": "ENSP00000441832.1",
"transcript_support_level": 2,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540510.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000859055.1",
"protein_id": "ENSP00000529114.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859055.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000859056.1",
"protein_id": "ENSP00000529115.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859056.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000859057.1",
"protein_id": "ENSP00000529116.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859057.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000859058.1",
"protein_id": "ENSP00000529117.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859058.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000912534.1",
"protein_id": "ENSP00000582593.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912534.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000912535.1",
"protein_id": "ENSP00000582594.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912535.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000912536.1",
"protein_id": "ENSP00000582595.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912536.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000912537.1",
"protein_id": "ENSP00000582596.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912537.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_011520623.4",
"protein_id": "XP_011518925.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 434,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520623.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_011520624.3",
"protein_id": "XP_011518926.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 434,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520624.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "XM_047428741.1",
"protein_id": "XP_047284697.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 434,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428741.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "XM_047428742.1",
"protein_id": "XP_047284698.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 415,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257004",
"gene_hgnc_id": null,
"hgvs_c": "n.465+3365T>C",
"hgvs_p": null,
"transcript": "ENST00000817557.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000817557.1"
}
],
"gene_symbol": "GPR19",
"gene_hgnc_id": 4473,
"dbsnp": "rs753884475",
"frequency_reference_population": 0.0000068410027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.000006841,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10109251737594604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0852,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.943,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_006143.3",
"gene_symbol": "GPR19",
"hgnc_id": 4473,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000817557.1",
"gene_symbol": "ENSG00000257004",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.465+3365T>C",
"hgvs_p": null
}
],
"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
}