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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: 7-96121696-G-GTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96121696&ref=G&alt=GTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 96121696,
"ref": "G",
"alt": "GTTT",
"effect": "stop_gained,disruptive_inframe_insertion",
"transcript": "NM_001160210.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1799_1800insAAA",
"hgvs_p": "p.Tyr600delinsTerAsn",
"transcript": "NM_014251.3",
"protein_id": "NP_055066.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 675,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265631.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014251.3"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1799_1800insAAA",
"hgvs_p": "p.Tyr600delinsTerAsn",
"transcript": "ENST00000265631.10",
"protein_id": "ENSP00000265631.6",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 675,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014251.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265631.10"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1802_1803insAAA",
"hgvs_p": "p.Tyr601delinsTerAsn",
"transcript": "ENST00000416240.6",
"protein_id": "ENSP00000400101.2",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 676,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416240.6"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1919_1920insAAA",
"hgvs_p": "p.Tyr640delinsTerAsn",
"transcript": "ENST00000856215.1",
"protein_id": "ENSP00000526274.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 715,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856215.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1856_1857insAAA",
"hgvs_p": "p.Tyr619delinsTerAsn",
"transcript": "ENST00000856219.1",
"protein_id": "ENSP00000526278.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 694,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856219.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1802_1803insAAA",
"hgvs_p": "p.Tyr601delinsTerAsn",
"transcript": "NM_001160210.2",
"protein_id": "NP_001153682.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 676,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160210.2"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1796_1797insAAA",
"hgvs_p": "p.Tyr599delinsTerAsn",
"transcript": "ENST00000948397.1",
"protein_id": "ENSP00000618456.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 674,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948397.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1745_1746insAAA",
"hgvs_p": "p.Tyr582delinsTerAsn",
"transcript": "ENST00000856217.1",
"protein_id": "ENSP00000526276.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 657,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856217.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1718_1719insAAA",
"hgvs_p": "p.Tyr573delinsTerAsn",
"transcript": "ENST00000856216.1",
"protein_id": "ENSP00000526275.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 648,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856216.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1658_1659insAAA",
"hgvs_p": "p.Tyr553delinsTerAsn",
"transcript": "ENST00000856218.1",
"protein_id": "ENSP00000526277.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 628,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856218.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1640_1641insAAA",
"hgvs_p": "p.Tyr547delinsTerAsn",
"transcript": "ENST00000935610.1",
"protein_id": "ENSP00000605669.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 622,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935610.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1604_1605insAAA",
"hgvs_p": "p.Tyr535delinsTerAsn",
"transcript": "ENST00000856220.1",
"protein_id": "ENSP00000526279.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 610,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856220.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.956_957insAAA",
"hgvs_p": "p.Tyr319delinsTerAsn",
"transcript": "ENST00000856214.1",
"protein_id": "ENSP00000526273.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 394,
"cds_start": 956,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856214.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1937_1938insAAA",
"hgvs_p": "p.Tyr646delinsTerAsn",
"transcript": "XM_017011663.2",
"protein_id": "XP_016867152.2",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 721,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011663.2"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1832_1833insAAA",
"hgvs_p": "p.Tyr611delinsTerAsn",
"transcript": "XM_047419712.1",
"protein_id": "XP_047275668.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 686,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419712.1"
},
{
"aa_ref": "Y",
"aa_alt": "*N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.947_948insAAA",
"hgvs_p": "p.Tyr316delinsTerAsn",
"transcript": "XM_047419715.1",
"protein_id": "XP_047275671.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 391,
"cds_start": 947,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419715.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.302_303insAAA",
"hgvs_p": null,
"transcript": "ENST00000494085.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000494085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.1825_1826insAAA",
"hgvs_p": null,
"transcript": "NR_027662.2",
"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_027662.2"
}
],
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"dbsnp": "rs80338726",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.796,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001160210.2",
"gene_symbol": "SLC25A13",
"hgnc_id": 10983,
"effects": [
"stop_gained",
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1802_1803insAAA",
"hgvs_p": "p.Tyr601delinsTerAsn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}