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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: 8-119788818-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119788818&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119788818,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378164.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "NM_003184.4",
"protein_id": "NP_003175.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "ENST00000378164.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000378164.7",
"protein_id": "ENSP00000367406.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": "NM_003184.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000686879.1",
"protein_id": "ENSP00000509206.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000685235.1",
"protein_id": "ENSP00000510174.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1214,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000688645.1",
"protein_id": "ENSP00000509978.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1541A>T",
"hgvs_p": "p.Tyr514Phe",
"transcript": "ENST00000523904.2",
"protein_id": "ENSP00000430832.2",
"transcript_support_level": 3,
"aa_start": 514,
"aa_end": null,
"aa_length": 1161,
"cds_start": 1541,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000690144.1",
"protein_id": "ENSP00000510548.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1655,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.1655A>T",
"hgvs_p": null,
"transcript": "ENST00000685202.1",
"protein_id": "ENSP00000509214.1",
"transcript_support_level": null,
"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": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1047A>T",
"hgvs_p": null,
"transcript": "ENST00000685503.1",
"protein_id": "ENSP00000509198.1",
"transcript_support_level": null,
"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": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1527A>T",
"hgvs_p": null,
"transcript": "ENST00000685663.1",
"protein_id": "ENSP00000508988.1",
"transcript_support_level": null,
"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": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*3122A>T",
"hgvs_p": null,
"transcript": "ENST00000685684.1",
"protein_id": "ENSP00000509441.1",
"transcript_support_level": null,
"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": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1356A>T",
"hgvs_p": null,
"transcript": "ENST00000685824.1",
"protein_id": "ENSP00000510262.1",
"transcript_support_level": null,
"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": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1373A>T",
"hgvs_p": null,
"transcript": "ENST00000685876.1",
"protein_id": "ENSP00000510493.1",
"transcript_support_level": null,
"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": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1470A>T",
"hgvs_p": null,
"transcript": "ENST00000685993.1",
"protein_id": "ENSP00000510102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*300A>T",
"hgvs_p": null,
"transcript": "ENST00000686098.1",
"protein_id": "ENSP00000509102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1074A>T",
"hgvs_p": null,
"transcript": "ENST00000688037.1",
"protein_id": "ENSP00000510169.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*300A>T",
"hgvs_p": null,
"transcript": "ENST00000689164.1",
"protein_id": "ENSP00000508729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1373A>T",
"hgvs_p": null,
"transcript": "ENST00000689919.1",
"protein_id": "ENSP00000510768.1",
"transcript_support_level": null,
"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": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*891A>T",
"hgvs_p": null,
"transcript": "ENST00000690808.1",
"protein_id": "ENSP00000509791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*67A>T",
"hgvs_p": null,
"transcript": "ENST00000690922.1",
"protein_id": "ENSP00000509498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*956A>T",
"hgvs_p": null,
"transcript": "ENST00000691847.1",
"protein_id": "ENSP00000509663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1311A>T",
"hgvs_p": null,
"transcript": "ENST00000691880.1",
"protein_id": "ENSP00000508515.1",
"transcript_support_level": null,
"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": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF2",
"gene_hgnc_id": 11536,
"hgvs_c": "n.*1356A>T",
"hgvs_p": null,
"transcript": "ENST00000692518.1",
"protein_id": "ENSP00000508959.1",
"transcript_support_level": null,
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],
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
"score": -16,
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"BS2"
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"verdict": "Benign",
"transcript": "ENST00000378164.7",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Microcephaly-thin corpus callosum-intellectual disability syndrome,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|not provided|Microcephaly-thin corpus callosum-intellectual disability syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}