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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: 7-96121308-AA-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96121308&ref=AA&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC25A13",
"hgnc_id": 10983,
"hgvs_c": "c.1913_1914delTTinsGC",
"hgvs_p": "p.Val638Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001160210.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "V",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014251.3",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1910_1911delTTinsGC",
"hgvs_p": "p.Val637Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265631.10",
"protein_coding": true,
"protein_id": "NP_055066.1",
"strand": false,
"transcript": "NM_014251.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 675,
"aa_ref": "V",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265631.10",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1910_1911delTTinsGC",
"hgvs_p": "p.Val637Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014251.3",
"protein_coding": true,
"protein_id": "ENSP00000265631.6",
"strand": false,
"transcript": "ENST00000265631.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 676,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416240.6",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1913_1914delTTinsGC",
"hgvs_p": "p.Val638Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400101.2",
"strand": false,
"transcript": "ENST00000416240.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 2148,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856215.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.2030_2031delTTinsGC",
"hgvs_p": "p.Val677Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526274.1",
"strand": false,
"transcript": "ENST00000856215.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 694,
"aa_ref": "V",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856219.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1967_1968delTTinsGC",
"hgvs_p": "p.Val656Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526278.1",
"strand": false,
"transcript": "ENST00000856219.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 676,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160210.2",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1913_1914delTTinsGC",
"hgvs_p": "p.Val638Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153682.1",
"strand": false,
"transcript": "NM_001160210.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 674,
"aa_ref": "V",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948397.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1907_1908delTTinsGC",
"hgvs_p": "p.Val636Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618456.1",
"strand": false,
"transcript": "ENST00000948397.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 657,
"aa_ref": "V",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856217.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1856_1857delTTinsGC",
"hgvs_p": "p.Val619Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526276.1",
"strand": false,
"transcript": "ENST00000856217.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 648,
"aa_ref": "V",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856216.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1829_1830delTTinsGC",
"hgvs_p": "p.Val610Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526275.1",
"strand": false,
"transcript": "ENST00000856216.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 628,
"aa_ref": "V",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 1862,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856218.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1769_1770delTTinsGC",
"hgvs_p": "p.Val590Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526277.1",
"strand": false,
"transcript": "ENST00000856218.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935610.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1751_1752delTTinsGC",
"hgvs_p": "p.Val584Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605669.1",
"strand": false,
"transcript": "ENST00000935610.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 610,
"aa_ref": "V",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856220.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1715_1716delTTinsGC",
"hgvs_p": "p.Val572Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526279.1",
"strand": false,
"transcript": "ENST00000856220.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "V",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856214.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1067_1068delTTinsGC",
"hgvs_p": "p.Val356Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526273.1",
"strand": false,
"transcript": "ENST00000856214.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 721,
"aa_ref": "V",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017011663.2",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.2048_2049delTTinsGC",
"hgvs_p": "p.Val683Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867152.2",
"strand": false,
"transcript": "XM_017011663.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 686,
"aa_ref": "V",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419712.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1943_1944delTTinsGC",
"hgvs_p": "p.Val648Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275668.1",
"strand": false,
"transcript": "XM_047419712.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 391,
"aa_ref": "V",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419715.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "c.1058_1059delTTinsGC",
"hgvs_p": "p.Val353Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275671.1",
"strand": false,
"transcript": "XM_047419715.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000494085.1",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "n.413_414delTTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494085.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_027662.2",
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"hgvs_c": "n.1936_1937delTTinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_027662.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10983,
"gene_symbol": "SLC25A13",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.156,
"pos": 96121308,
"ref": "AA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001160210.2"
}
]
}