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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: 21-44873607-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44873607&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44873607,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004339.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "NM_004339.4",
"protein_id": "NP_004330.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 180,
"cds_start": 10,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330938.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004339.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000330938.8",
"protein_id": "ENSP00000328325.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 180,
"cds_start": 10,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004339.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330938.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898882.1",
"protein_id": "ENSP00000568941.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 212,
"cds_start": 10,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898882.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898881.1",
"protein_id": "ENSP00000568940.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 185,
"cds_start": 10,
"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": "ENST00000898881.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898878.1",
"protein_id": "ENSP00000568937.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 179,
"cds_start": 10,
"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": "ENST00000898878.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898880.1",
"protein_id": "ENSP00000568939.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 178,
"cds_start": 10,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898880.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000949455.1",
"protein_id": "ENSP00000619514.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 176,
"cds_start": 10,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949455.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000949456.1",
"protein_id": "ENSP00000619515.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 168,
"cds_start": 10,
"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": "ENST00000949456.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "NM_001286822.2",
"protein_id": "NP_001273751.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 142,
"cds_start": 10,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286822.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000445724.3",
"protein_id": "ENSP00000395374.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 142,
"cds_start": 10,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445724.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898879.1",
"protein_id": "ENSP00000568938.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 126,
"cds_start": 10,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898879.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000397887.7",
"protein_id": "ENSP00000380984.3",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 107,
"cds_start": 10,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397887.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg",
"transcript": "ENST00000898877.1",
"protein_id": "ENSP00000568936.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 53,
"cds_start": 10,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "n.62G>A",
"hgvs_p": null,
"transcript": "ENST00000480234.1",
"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": "ENST00000480234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"hgvs_c": "n.84G>A",
"hgvs_p": null,
"transcript": "NR_104597.2",
"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": "NR_104597.2"
}
],
"gene_symbol": "PTTG1IP",
"gene_hgnc_id": 13524,
"dbsnp": "rs370210322",
"frequency_reference_population": 0.00064543623,
"hom_count_reference_population": 3,
"allele_count_reference_population": 927,
"gnomad_exomes_af": 0.000584887,
"gnomad_genomes_af": 0.00115615,
"gnomad_exomes_ac": 751,
"gnomad_genomes_ac": 176,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007548689842224121,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.927,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004339.4",
"gene_symbol": "PTTG1IP",
"hgnc_id": 13524,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Gly4Arg"
}
],
"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
}