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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: 12-71913836-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=71913836&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 71913836,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000485960.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Gln437His",
"transcript": "NM_001146213.3",
"protein_id": "NP_001139685.2",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 674,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "ENST00000485960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Gln437His",
"transcript": "ENST00000485960.7",
"protein_id": "ENSP00000420678.2",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 674,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": "NM_001146213.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1362A>T",
"hgvs_p": "p.Gln454His",
"transcript": "ENST00000550746.5",
"protein_id": "ENSP00000448182.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 691,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 6184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.*725A>T",
"hgvs_p": null,
"transcript": "ENST00000462788.6",
"protein_id": "ENSP00000418467.2",
"transcript_support_level": 1,
"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": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.477A>T",
"hgvs_p": null,
"transcript": "ENST00000546450.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.*725A>T",
"hgvs_p": null,
"transcript": "ENST00000462788.6",
"protein_id": "ENSP00000418467.2",
"transcript_support_level": 1,
"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": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1362A>T",
"hgvs_p": "p.Gln454His",
"transcript": "NM_022771.6",
"protein_id": "NP_073608.4",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 691,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1335A>T",
"hgvs_p": "p.Gln445His",
"transcript": "ENST00000319106.12",
"protein_id": "ENSP00000318262.6",
"transcript_support_level": 2,
"aa_start": 445,
"aa_end": null,
"aa_length": 682,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Gln437His",
"transcript": "NM_001385848.1",
"protein_id": "NP_001372777.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 672,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1278A>T",
"hgvs_p": "p.Gln426His",
"transcript": "NM_001385849.1",
"protein_id": "NP_001372778.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 663,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1236A>T",
"hgvs_p": "p.Gln412His",
"transcript": "NM_001385852.1",
"protein_id": "NP_001372781.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 649,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1194A>T",
"hgvs_p": "p.Gln398His",
"transcript": "NM_001385853.1",
"protein_id": "NP_001372782.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 635,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1137A>T",
"hgvs_p": "p.Gln379His",
"transcript": "NM_001385854.1",
"protein_id": "NP_001372783.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 616,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1014A>T",
"hgvs_p": "p.Gln338His",
"transcript": "NM_001146214.3",
"protein_id": "NP_001139686.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 575,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1386A>T",
"hgvs_p": "p.Gln462His",
"transcript": "XM_006719564.3",
"protein_id": "XP_006719627.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 699,
"cds_start": 1386,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1335A>T",
"hgvs_p": "p.Gln445His",
"transcript": "XM_047429362.1",
"protein_id": "XP_047285318.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 682,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1284A>T",
"hgvs_p": "p.Gln428His",
"transcript": "XM_047429363.1",
"protein_id": "XP_047285319.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 665,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Gln355His",
"transcript": "XM_011538679.1",
"protein_id": "XP_011536981.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 592,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Gln355His",
"transcript": "XM_047429364.1",
"protein_id": "XP_047285320.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 592,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "c.624A>T",
"hgvs_p": "p.Gln208His",
"transcript": "XM_047429366.1",
"protein_id": "XP_047285322.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 445,
"cds_start": 624,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.616A>T",
"hgvs_p": null,
"transcript": "ENST00000483828.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
"hgvs_c": "n.420A>T",
"hgvs_p": null,
"transcript": "ENST00000548679.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D15",
"gene_hgnc_id": 25694,
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},
{
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{
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},
{
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}
],
"gene_symbol": "TBC1D15",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9908900260925293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.707,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000485960.7",
"gene_symbol": "TBC1D15",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Gln437His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}