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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: 3-114350299-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=114350299&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 114350299,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "ENST00000675478.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "NM_001348800.3",
"protein_id": "NP_001335729.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 27503,
"mane_select": "ENST00000675478.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "ENST00000675478.1",
"protein_id": "ENSP00000501561.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 27503,
"mane_select": "NM_001348800.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "ENST00000474710.6",
"protein_id": "ENSP00000419153.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "ENST00000357258.8",
"protein_id": "ENSP00000349803.3",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 27125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "ENST00000462705.5",
"protein_id": "ENSP00000420324.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "ENST00000464560.5",
"protein_id": "ENSP00000417307.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "ENST00000471418.5",
"protein_id": "ENSP00000419902.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "ENST00000481632.5",
"protein_id": "ENSP00000418092.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "NM_001164342.2",
"protein_id": "NP_001157814.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 26911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "NM_001348803.3",
"protein_id": "NP_001335732.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 27626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "NM_001393393.1",
"protein_id": "NP_001380322.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 27192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "NM_001393394.1",
"protein_id": "NP_001380323.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 27258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "ENST00000676079.1",
"protein_id": "ENSP00000502480.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 741,
"cds_start": 1779,
"cds_end": null,
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"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Tyr593*",
"transcript": "ENST00000704358.1",
"protein_id": "ENSP00000515869.1",
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"aa_start": 593,
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"cdna_start": 2539,
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"cdna_length": 3903,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001164343.2",
"protein_id": "NP_001157815.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 27373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001164344.4",
"protein_id": "NP_001157816.1",
"transcript_support_level": null,
"aa_start": 520,
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"cds_start": 1560,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001164345.4",
"protein_id": "NP_001157817.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
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"cds_length": 2007,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 27121,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001164346.2",
"protein_id": "NP_001157818.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1978,
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"cdna_length": 26930,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001164347.2",
"protein_id": "NP_001157819.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001348801.3",
"protein_id": "NP_001335730.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
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"cdna_start": 2277,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001348802.3",
"protein_id": "NP_001335731.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 27238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1560C>G",
"hgvs_p": "p.Tyr520*",
"transcript": "NM_001348804.3",
"protein_id": "NP_001335733.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 668,
"cds_start": 1560,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 27207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
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}
],
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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{
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"PM2"
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"verdict": "Pathogenic",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}