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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: 7-75582098-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75582098&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75582098,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000336926.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala",
"transcript": "NM_005338.7",
"protein_id": "NP_005329.3",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 1037,
"cds_start": 519,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "ENST00000336926.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala",
"transcript": "ENST00000336926.11",
"protein_id": "ENSP00000336747.6",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 1037,
"cds_start": 519,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": "NM_005338.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "ENST00000616821.4",
"protein_id": "ENSP00000484528.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1008,
"cds_start": 432,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "NM_001382445.1",
"protein_id": "NP_001369374.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1008,
"cds_start": 432,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.417T>C",
"hgvs_p": "p.Ala139Ala",
"transcript": "NM_001382444.1",
"protein_id": "NP_001369373.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1003,
"cds_start": 417,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 8060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala",
"transcript": "NM_001243198.3",
"protein_id": "NP_001230127.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 986,
"cds_start": 519,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala",
"transcript": "ENST00000434438.6",
"protein_id": "ENSP00000410300.2",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 986,
"cds_start": 519,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 7066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "ENST00000420909.1",
"protein_id": "ENSP00000414280.1",
"transcript_support_level": 3,
"aa_start": 144,
"aa_end": null,
"aa_length": 145,
"cds_start": 432,
"cds_end": null,
"cds_length": 438,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala",
"transcript": "XM_011516116.3",
"protein_id": "XP_011514418.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 1037,
"cds_start": 519,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.477T>C",
"hgvs_p": "p.Ala159Ala",
"transcript": "XM_017012099.2",
"protein_id": "XP_016867588.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1023,
"cds_start": 477,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 8403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "XM_047420294.1",
"protein_id": "XP_047276250.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1008,
"cds_start": 432,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 7602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"hgvs_c": "c.417T>C",
"hgvs_p": "p.Ala139Ala",
"transcript": "XM_047420295.1",
"protein_id": "XP_047276251.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1003,
"cds_start": 417,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 7643,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294540",
"gene_hgnc_id": null,
"hgvs_c": "n.103-1513A>G",
"hgvs_p": null,
"transcript": "ENST00000724295.1",
"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": 358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HIP1",
"gene_hgnc_id": 4913,
"dbsnp": "rs237238",
"frequency_reference_population": 0.07459078,
"hom_count_reference_population": 5018,
"allele_count_reference_population": 120357,
"gnomad_exomes_af": 0.0739938,
"gnomad_genomes_af": 0.0803236,
"gnomad_exomes_ac": 108134,
"gnomad_genomes_ac": 12223,
"gnomad_exomes_homalt": 4496,
"gnomad_genomes_homalt": 522,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.796,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000336926.11",
"gene_symbol": "HIP1",
"hgnc_id": 4913,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.519T>C",
"hgvs_p": "p.Ala173Ala"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000724295.1",
"gene_symbol": "ENSG00000294540",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.103-1513A>G",
"hgvs_p": null
}
],
"clinvar_disease": "HIP1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "HIP1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}