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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: 5-160565860-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160565860&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160565860,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_025153.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "NM_025153.3",
"protein_id": "NP_079429.2",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4825,
"cdna_end": null,
"cdna_length": 7565,
"mane_select": "ENST00000327245.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "ENST00000327245.10",
"protein_id": "ENSP00000313600.5",
"transcript_support_level": 1,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4825,
"cdna_end": null,
"cdna_length": 7565,
"mane_select": "NM_025153.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "NM_001366652.1",
"protein_id": "NP_001353581.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4464,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "NM_001366655.1",
"protein_id": "NP_001353584.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4641,
"cdna_end": null,
"cdna_length": 7381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3943C>T",
"hgvs_p": "p.Leu1315Leu",
"transcript": "NM_001366657.1",
"protein_id": "NP_001353586.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3943,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 4605,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3895C>T",
"hgvs_p": "p.Leu1299Leu",
"transcript": "NM_001410822.1",
"protein_id": "NP_001397751.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4066,
"cdna_end": null,
"cdna_length": 6806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3895C>T",
"hgvs_p": "p.Leu1299Leu",
"transcript": "ENST00000642502.1",
"protein_id": "ENSP00000493802.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4060,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "XM_011534468.3",
"protein_id": "XP_011532770.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4332,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "XM_011534469.2",
"protein_id": "XP_011532771.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4648,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu",
"transcript": "XM_047416994.1",
"protein_id": "XP_047272950.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4458,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3943C>T",
"hgvs_p": "p.Leu1315Leu",
"transcript": "XM_017009252.2",
"protein_id": "XP_016864741.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3943,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3778C>T",
"hgvs_p": "p.Leu1260Leu",
"transcript": "XM_047416995.1",
"protein_id": "XP_047272951.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3778,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 4131,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"hgvs_c": "c.3694C>T",
"hgvs_p": "p.Leu1232Leu",
"transcript": "XM_047416996.1",
"protein_id": "XP_047272952.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3694,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 6605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR3142HG",
"gene_hgnc_id": 51944,
"hgvs_c": "n.658-34849G>A",
"hgvs_p": null,
"transcript": "ENST00000770454.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR3142HG",
"gene_hgnc_id": 51944,
"hgvs_c": "n.563-34849G>A",
"hgvs_p": null,
"transcript": "ENST00000770455.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR3142HG",
"gene_hgnc_id": 51944,
"hgvs_c": "n.340+13267G>A",
"hgvs_p": null,
"transcript": "ENST00000770456.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR3142HG",
"gene_hgnc_id": 51944,
"hgvs_c": "n.317+13267G>A",
"hgvs_p": null,
"transcript": "ENST00000770457.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP10B",
"gene_hgnc_id": 13543,
"dbsnp": "rs1396994309",
"frequency_reference_population": 6.842613e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84261e-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": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.343,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_025153.3",
"gene_symbol": "ATP10B",
"hgnc_id": 13543,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3979C>T",
"hgvs_p": "p.Leu1327Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000770454.1",
"gene_symbol": "MIR3142HG",
"hgnc_id": 51944,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.658-34849G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}