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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: 10-98423758-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98423758&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98423758,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000361490.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "NM_000195.5",
"protein_id": "NP_000186.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "ENST00000361490.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000361490.9",
"protein_id": "ENSP00000355310.4",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "NM_000195.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*886C>G",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*886C>G",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*886C>G",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*886C>G",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1785C>G",
"hgvs_p": "p.Leu595Leu",
"transcript": "ENST00000699134.1",
"protein_id": "ENSP00000514151.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 786,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1557C>G",
"hgvs_p": "p.Leu519Leu",
"transcript": "ENST00000699125.1",
"protein_id": "ENSP00000514146.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 710,
"cds_start": 1557,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "NM_001322476.2",
"protein_id": "NP_001309405.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "NM_001322477.2",
"protein_id": "NP_001309406.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000325103.10",
"protein_id": "ENSP00000326649.6",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000699142.1",
"protein_id": "ENSP00000514159.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 700,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1428C>G",
"hgvs_p": "p.Leu476Leu",
"transcript": "NM_001322478.2",
"protein_id": "NP_001309407.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 667,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1428C>G",
"hgvs_p": "p.Leu476Leu",
"transcript": "NM_001322479.2",
"protein_id": "NP_001309408.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 667,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1428C>G",
"hgvs_p": "p.Leu476Leu",
"transcript": "ENST00000699136.1",
"protein_id": "ENSP00000514153.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 667,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1428C>G",
"hgvs_p": "p.Leu476Leu",
"transcript": "ENST00000699140.1",
"protein_id": "ENSP00000514157.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 667,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1527C>G",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000699146.1",
"protein_id": "ENSP00000514164.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 663,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Leu453Leu",
"transcript": "ENST00000699131.1",
"protein_id": "ENSP00000514149.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 644,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1266C>G",
"hgvs_p": "p.Leu422Leu",
"transcript": "NM_001322480.2",
"protein_id": "NP_001309409.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 613,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1266C>G",
"hgvs_p": "p.Leu422Leu",
"transcript": "NM_001322481.2",
"protein_id": "NP_001309410.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 613,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1266C>G",
"hgvs_p": "p.Leu422Leu",
"transcript": "ENST00000699139.1",
"protein_id": "ENSP00000514156.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 613,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Leu420Leu",
"transcript": "ENST00000699133.1",
"protein_id": "ENSP00000514150.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 611,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1167C>G",
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"computational_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.59,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361490.9",
"gene_symbol": "HPS1",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Leu509Leu"
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{
"score": -20,
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000699159.1",
"gene_symbol": "ENSG00000289758",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*886C>G",
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}
],
"clinvar_disease": "Hermansky-Pudlak syndrome,Hermansky-Pudlak syndrome 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Hermansky-Pudlak syndrome 1|not provided|Hermansky-Pudlak syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}