← Back to variant description
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: 7-150858827-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150858827&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150858827,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001272072.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "NM_001091.4",
"protein_id": "NP_001082.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360937.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001091.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000360937.9",
"protein_id": "ENSP00000354193.4",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001091.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360937.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000416793.6",
"protein_id": "ENSP00000411613.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 770,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416793.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "NM_001272072.2",
"protein_id": "NP_001259001.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 770,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272072.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000941409.1",
"protein_id": "ENSP00000611468.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 770,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941409.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000467291.5",
"protein_id": "ENSP00000418328.1",
"transcript_support_level": 5,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467291.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000493429.5",
"protein_id": "ENSP00000418614.1",
"transcript_support_level": 5,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493429.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000863992.1",
"protein_id": "ENSP00000534051.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863992.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000863993.1",
"protein_id": "ENSP00000534052.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863993.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000863994.1",
"protein_id": "ENSP00000534053.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863994.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "ENST00000941408.1",
"protein_id": "ENSP00000611467.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941408.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "XM_017011945.2",
"protein_id": "XP_016867434.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 770,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011945.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "XM_017011946.3",
"protein_id": "XP_016867435.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 770,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011946.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "XM_017011947.2",
"protein_id": "XP_016867436.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011947.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro",
"transcript": "XM_047420128.1",
"protein_id": "XP_047276084.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 751,
"cds_start": 1635,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"hgvs_c": "n.173A>G",
"hgvs_p": null,
"transcript": "ENST00000480582.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000480582.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.270+18182T>C",
"hgvs_p": null,
"transcript": "ENST00000726369.1",
"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": "ENST00000726369.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.262-17382T>C",
"hgvs_p": null,
"transcript": "ENST00000726370.1",
"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": "ENST00000726370.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.262-17382T>C",
"hgvs_p": null,
"transcript": "ENST00000726371.1",
"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": "ENST00000726371.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289052",
"gene_hgnc_id": null,
"hgvs_c": "n.252+18182T>C",
"hgvs_p": null,
"transcript": "ENST00000726372.1",
"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": "ENST00000726372.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375567",
"gene_hgnc_id": null,
"hgvs_c": "n.123-17382T>C",
"hgvs_p": null,
"transcript": "XR_928169.3",
"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": "XR_928169.3"
},
{
"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": "LOC105375567",
"gene_hgnc_id": null,
"hgvs_c": "n.123-17382T>C",
"hgvs_p": null,
"transcript": "XR_928171.3",
"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": "XR_928171.3"
}
],
"gene_symbol": "AOC1",
"gene_hgnc_id": 80,
"dbsnp": "rs10893",
"frequency_reference_population": 0.33699772,
"hom_count_reference_population": 97321,
"allele_count_reference_population": 543516,
"gnomad_exomes_af": 0.332282,
"gnomad_genomes_af": 0.382325,
"gnomad_exomes_ac": 485414,
"gnomad_genomes_ac": 58102,
"gnomad_exomes_homalt": 85479,
"gnomad_genomes_homalt": 11842,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.311,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001272072.2",
"gene_symbol": "AOC1",
"hgnc_id": 80,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1635A>G",
"hgvs_p": "p.Pro545Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000726369.1",
"gene_symbol": "ENSG00000289052",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.270+18182T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_928169.3",
"gene_symbol": "LOC105375567",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.123-17382T>C",
"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
}