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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: 9-414857-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=414857&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 414857,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000432829.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3606T>A",
"hgvs_p": "p.Cys1202*",
"transcript": "NM_203447.4",
"protein_id": "NP_982272.2",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 2099,
"cds_start": 3606,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 3718,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "ENST00000432829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3606T>A",
"hgvs_p": "p.Cys1202*",
"transcript": "ENST00000432829.7",
"protein_id": "ENSP00000394888.3",
"transcript_support_level": 1,
"aa_start": 1202,
"aa_end": null,
"aa_length": 2099,
"cds_start": 3606,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 3718,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "NM_203447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "ENST00000469391.5",
"protein_id": "ENSP00000419438.1",
"transcript_support_level": 1,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1999,
"cds_start": 3306,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "ENST00000382329.2",
"protein_id": "ENSP00000371766.2",
"transcript_support_level": 1,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1936,
"cds_start": 3306,
"cds_end": null,
"cds_length": 5811,
"cdna_start": 3703,
"cdna_end": null,
"cdna_length": 6538,
"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": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.5561T>A",
"hgvs_p": null,
"transcript": "ENST00000495184.5",
"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": 9277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "NM_001193536.2",
"protein_id": "NP_001180465.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2031,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 7235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "ENST00000453981.5",
"protein_id": "ENSP00000408464.2",
"transcript_support_level": 5,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2031,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "NM_001190458.2",
"protein_id": "NP_001177387.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1999,
"cds_start": 3306,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3507T>A",
"hgvs_p": "p.Cys1169*",
"transcript": "XM_047423931.1",
"protein_id": "XP_047279887.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3507T>A",
"hgvs_p": "p.Cys1169*",
"transcript": "XM_047423932.1",
"protein_id": "XP_047279888.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 2068,
"cds_start": 3507,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 3968,
"cdna_end": null,
"cdna_length": 6784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3468T>A",
"hgvs_p": "p.Cys1156*",
"transcript": "XM_047423934.1",
"protein_id": "XP_047279890.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 2055,
"cds_start": 3468,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3468T>A",
"hgvs_p": "p.Cys1156*",
"transcript": "XM_011518046.3",
"protein_id": "XP_011516348.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 2053,
"cds_start": 3468,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_047423927.1",
"protein_id": "XP_047279883.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2033,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2033,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_047423935.1",
"protein_id": "XP_047279891.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2033,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_017015173.2",
"protein_id": "XP_016870662.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2031,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_047423929.1",
"protein_id": "XP_047279885.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2031,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3402T>A",
"hgvs_p": "p.Cys1134*",
"transcript": "XM_047423933.1",
"protein_id": "XP_047279889.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 2031,
"cds_start": 3402,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3372T>A",
"hgvs_p": "p.Cys1124*",
"transcript": "XM_047423936.1",
"protein_id": "XP_047279892.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 2021,
"cds_start": 3372,
"cds_end": null,
"cds_length": 6066,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "XM_047423930.1",
"protein_id": "XP_047279886.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3306,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "XM_047423937.1",
"protein_id": "XP_047279893.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 2001,
"cds_start": 3306,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.3306T>A",
"hgvs_p": "p.Cys1102*",
"transcript": "XM_011518045.4",
"protein_id": "XP_011516347.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1999,
"cds_start": 3306,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 7247,
"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": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
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},
{
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"strand": true,
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}
],
"gene_symbol": "DOCK8",
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"dbsnp": "rs143919622",
"frequency_reference_population": 6.84046e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.3199999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.67,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000432829.7",
"gene_symbol": "DOCK8",
"hgnc_id": 19191,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3606T>A",
"hgvs_p": "p.Cys1202*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}