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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: 14-91234830-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=91234830&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 91234830,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003485.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "NM_001177676.2",
"protein_id": "NP_001171147.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650645.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177676.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000650645.1",
"protein_id": "ENSP00000498702.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001177676.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650645.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000531499.2",
"protein_id": "ENSP00000434045.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531499.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000535815.5",
"protein_id": "ENSP00000440797.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535815.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000529102.1",
"protein_id": "ENSP00000432740.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 337,
"cds_start": 221,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529102.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "NM_001348437.1",
"protein_id": "NP_001335366.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348437.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "NM_003485.3",
"protein_id": "NP_003476.3",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003485.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000904053.1",
"protein_id": "ENSP00000574112.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904053.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000904054.1",
"protein_id": "ENSP00000574113.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904054.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000904055.1",
"protein_id": "ENSP00000574114.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904055.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro",
"transcript": "ENST00000904056.1",
"protein_id": "ENSP00000574115.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 365,
"cds_start": 221,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904056.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_005268110.5",
"protein_id": "XP_005268167.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268110.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_005268111.4",
"protein_id": "XP_005268168.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268111.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_005268112.4",
"protein_id": "XP_005268169.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268112.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_011537197.4",
"protein_id": "XP_011535499.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537197.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_011537198.3",
"protein_id": "XP_011535500.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537198.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_011537199.3",
"protein_id": "XP_011535501.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537199.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_047431790.1",
"protein_id": "XP_047287746.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431790.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_047431791.1",
"protein_id": "XP_047287747.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431791.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "GPR68",
"gene_hgnc_id": 4519,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "XM_047431792.1",
"protein_id": "XP_047287748.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 375,
"cds_start": 251,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431792.1"
}
],
"gene_symbol": "GPR68",
"gene_hgnc_id": 4519,
"dbsnp": "rs1057517672",
"frequency_reference_population": 6.845124e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84512e-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": 0.916418194770813,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.882,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003485.3",
"gene_symbol": "GPR68",
"hgnc_id": 4519,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Leu74Pro"
}
],
"clinvar_disease": " IIa6, hypomaturation type,Amelogenesis imperfecta",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Amelogenesis imperfecta|Amelogenesis imperfecta, hypomaturation type, IIa6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}