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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: 1-172442356-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=172442356&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 172442356,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002642.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "NM_153747.2",
"protein_id": "NP_714969.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344529.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153747.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000344529.5",
"protein_id": "ENSP00000356701.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153747.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344529.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.22-2717A>G",
"hgvs_p": null,
"transcript": "NM_139240.4",
"protein_id": "NP_640333.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367727.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139240.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.22-2717A>G",
"hgvs_p": null,
"transcript": "ENST00000367727.9",
"protein_id": "ENSP00000356700.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139240.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367727.9"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "n.96+1632T>C",
"hgvs_p": null,
"transcript": "ENST00000484368.1",
"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": "ENST00000484368.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "NM_002642.4",
"protein_id": "NP_002633.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002642.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000367728.1",
"protein_id": "ENSP00000356702.1",
"transcript_support_level": 6,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367728.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000862975.1",
"protein_id": "ENSP00000533034.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862975.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000862976.1",
"protein_id": "ENSP00000533035.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862976.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000862977.1",
"protein_id": "ENSP00000533036.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862977.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000862978.1",
"protein_id": "ENSP00000533037.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862978.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000934579.1",
"protein_id": "ENSP00000604638.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934579.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000934580.1",
"protein_id": "ENSP00000604639.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934580.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000952346.1",
"protein_id": "ENSP00000622405.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952346.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly",
"transcript": "ENST00000952347.1",
"protein_id": "ENSP00000622406.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 297,
"cds_start": 267,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.103-2717A>G",
"hgvs_p": null,
"transcript": "XM_011510152.3",
"protein_id": "XP_011508454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510152.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.10-2717A>G",
"hgvs_p": null,
"transcript": "XM_011510153.3",
"protein_id": "XP_011508455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510153.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.-46-6085A>G",
"hgvs_p": null,
"transcript": "XM_011510154.3",
"protein_id": "XP_011508456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510154.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf105",
"gene_hgnc_id": 29591,
"hgvs_c": "c.22-14059A>G",
"hgvs_p": null,
"transcript": "XM_011510156.3",
"protein_id": "XP_011508458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510156.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "ENST00000478184.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478184.1"
}
],
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"dbsnp": "rs2230471",
"frequency_reference_population": 0.8480582,
"hom_count_reference_population": 582100,
"allele_count_reference_population": 1367867,
"gnomad_exomes_af": 0.846331,
"gnomad_genomes_af": 0.864643,
"gnomad_exomes_ac": 1236322,
"gnomad_genomes_ac": 131545,
"gnomad_exomes_homalt": 525036,
"gnomad_genomes_homalt": 57064,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.136,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002642.4",
"gene_symbol": "PIGC",
"hgnc_id": 8960,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Gly89Gly"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_139240.4",
"gene_symbol": "C1orf105",
"hgnc_id": 29591,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.22-2717A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Glycosylphosphatidylinositol biosynthesis defect 16,PIGC-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Glycosylphosphatidylinositol biosynthesis defect 16|not provided|PIGC-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}