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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: 9-36840620-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36840620&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36840620,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001280549.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Ile295Thr",
"transcript": "ENST00000523241.6",
"protein_id": "ENSP00000429637.1",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 324,
"cds_start": 884,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523241.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Ile266Thr",
"transcript": "ENST00000520154.6",
"protein_id": "ENSP00000429291.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 295,
"cds_start": 797,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520154.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1116T>C",
"hgvs_p": "p.Tyr372Tyr",
"transcript": "NM_016734.3",
"protein_id": "NP_057953.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 391,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358127.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016734.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1116T>C",
"hgvs_p": "p.Tyr372Tyr",
"transcript": "ENST00000358127.9",
"protein_id": "ENSP00000350844.4",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 391,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016734.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358127.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1029T>C",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "ENST00000377853.6",
"protein_id": "ENSP00000367084.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 362,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377853.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000377852.7",
"protein_id": "ENSP00000367083.2",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 357,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377852.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.987T>C",
"hgvs_p": "p.Tyr329Tyr",
"transcript": "ENST00000414447.5",
"protein_id": "ENSP00000412188.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 348,
"cds_start": 987,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414447.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.927T>C",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000377847.6",
"protein_id": "ENSP00000367078.2",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 328,
"cds_start": 927,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377847.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.900T>C",
"hgvs_p": "p.Tyr300Tyr",
"transcript": "ENST00000520281.5",
"protein_id": "ENSP00000430773.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 319,
"cds_start": 900,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520281.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Tyr272Tyr",
"transcript": "ENST00000446742.5",
"protein_id": "ENSP00000404687.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 291,
"cds_start": 816,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446742.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.792T>C",
"hgvs_p": "p.Tyr264Tyr",
"transcript": "ENST00000522003.5",
"protein_id": "ENSP00000429359.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 283,
"cds_start": 792,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522003.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.603T>C",
"hgvs_p": "p.Tyr201Tyr",
"transcript": "ENST00000523145.5",
"protein_id": "ENSP00000429197.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 220,
"cds_start": 603,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523145.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.597T>C",
"hgvs_p": "p.Tyr199Tyr",
"transcript": "ENST00000524340.5",
"protein_id": "ENSP00000429404.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 218,
"cds_start": 597,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524340.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.120T>C",
"hgvs_p": "p.Tyr40Tyr",
"transcript": "ENST00000522932.1",
"protein_id": "ENSP00000428670.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 59,
"cds_start": 120,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*119T>C",
"hgvs_p": null,
"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000377840.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*119T>C",
"hgvs_p": null,
"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523493.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*119T>C",
"hgvs_p": null,
"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000377840.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*119T>C",
"hgvs_p": null,
"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000523493.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Ile295Thr",
"transcript": "NM_001280549.2",
"protein_id": "NP_001267478.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 324,
"cds_start": 884,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280549.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Ile266Thr",
"transcript": "NM_001280550.2",
"protein_id": "NP_001267479.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 295,
"cds_start": 797,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280550.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1029T>C",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "NM_001280548.2",
"protein_id": "NP_001267477.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 362,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280548.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1014T>C",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "NM_001280547.2",
"protein_id": "NP_001267476.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 357,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
"gene_symbol": "PAX5",
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"dbsnp": "rs779803052",
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"computational_score_selected": 0.01402658224105835,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001280549.2",
"gene_symbol": "PAX5",
"hgnc_id": 8619,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Ile295Thr"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}