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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: 9-304628-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=304628&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 304628,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000432829.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "NM_203447.4",
"protein_id": "NP_982272.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 2099,
"cds_start": 452,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "ENST00000432829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "ENST00000432829.7",
"protein_id": "ENSP00000394888.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 2099,
"cds_start": 452,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "NM_203447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000469391.5",
"protein_id": "ENSP00000419438.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 1999,
"cds_start": 248,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000382329.2",
"protein_id": "ENSP00000371766.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 1936,
"cds_start": 248,
"cds_end": null,
"cds_length": 5811,
"cdna_start": 645,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.331G>A",
"hgvs_p": null,
"transcript": "ENST00000478380.5",
"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": 1395,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.248G>A",
"hgvs_p": null,
"transcript": "ENST00000483757.6",
"protein_id": "ENSP00000417691.2",
"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": 4000,
"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": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.313G>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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "NM_001193536.2",
"protein_id": "NP_001180465.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2031,
"cds_start": 248,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 7235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000453981.5",
"protein_id": "ENSP00000408464.2",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 2031,
"cds_start": 248,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "NM_001190458.2",
"protein_id": "NP_001177387.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 1999,
"cds_start": 248,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000682249.1",
"protein_id": "ENSP00000507731.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 187,
"cds_start": 248,
"cds_end": null,
"cds_length": 564,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "ENST00000487230.5",
"protein_id": "ENSP00000418318.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 106,
"cds_start": 248,
"cds_end": null,
"cds_length": 323,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118Gln",
"transcript": "XM_047423931.1",
"protein_id": "XP_047279887.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 2068,
"cds_start": 353,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118Gln",
"transcript": "XM_047423932.1",
"protein_id": "XP_047279888.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 2068,
"cds_start": 353,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 6784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"transcript": "XM_047423934.1",
"protein_id": "XP_047279890.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 2055,
"cds_start": 314,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 6436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"transcript": "XM_011518046.3",
"protein_id": "XP_011516348.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 2053,
"cds_start": 314,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 7350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_047423927.1",
"protein_id": "XP_047279883.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2033,
"cds_start": 248,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2033,
"cds_start": 248,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_047423935.1",
"protein_id": "XP_047279891.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2033,
"cds_start": 248,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_017015173.2",
"protein_id": "XP_016870662.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2031,
"cds_start": 248,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_047423929.1",
"protein_id": "XP_047279885.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2031,
"cds_start": 248,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 7345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83Gln",
"transcript": "XM_047423933.1",
"protein_id": "XP_047279889.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 2031,
"cds_start": 248,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.314G>A",
"hgvs_p": "p.Arg105Gln",
"transcript": "XM_047423936.1",
"protein_id": "XP_047279892.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
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],
"gene_symbol": "DOCK8",
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"dbsnp": "rs149918318",
"frequency_reference_population": 0.0017631702,
"hom_count_reference_population": 9,
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"computational_score_selected": 0.007165193557739258,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.2800000011920929,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.914,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
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"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000432829.7",
"gene_symbol": "DOCK8",
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"effects": [
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.452G>A",
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}
],
"clinvar_disease": "Combined immunodeficiency due to DOCK8 deficiency,DOCK8-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"phenotype_combined": "not specified|Combined immunodeficiency due to DOCK8 deficiency||DOCK8-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}