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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: 16-14482795-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14482795&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14482795,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000437198.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "NM_002582.4",
"protein_id": "NP_002573.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 639,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000437198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000437198.7",
"protein_id": "ENSP00000387911.2",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 639,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_002582.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530Trp",
"transcript": "ENST00000650990.1",
"protein_id": "ENSP00000498741.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 664,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000697474.1",
"protein_id": "ENSP00000513329.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 659,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"transcript": "ENST00000651865.1",
"protein_id": "ENSP00000498567.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 614,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459Trp",
"transcript": "NM_001242992.2",
"protein_id": "NP_001229921.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 593,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459Trp",
"transcript": "ENST00000420015.6",
"protein_id": "ENSP00000410525.2",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 593,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000650960.1",
"protein_id": "ENSP00000499110.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 590,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000651049.1",
"protein_id": "ENSP00000498644.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 585,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Arg447Trp",
"transcript": "ENST00000652727.1",
"protein_id": "ENSP00000498650.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 581,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Trp",
"transcript": "NM_001134477.3",
"protein_id": "NP_001127949.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 578,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Trp",
"transcript": "ENST00000341484.11",
"protein_id": "ENSP00000345456.7",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 578,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "ENST00000651634.1",
"protein_id": "ENSP00000499078.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 577,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330Trp",
"transcript": "ENST00000539279.5",
"protein_id": "ENSP00000444381.1",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 464,
"cds_start": 988,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "XM_047434181.1",
"protein_id": "XP_047290137.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 590,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505Trp",
"transcript": "XM_047434182.1",
"protein_id": "XP_047290138.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 590,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Trp",
"transcript": "XM_047434183.1",
"protein_id": "XP_047290139.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 529,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Trp",
"transcript": "XM_047434184.1",
"protein_id": "XP_047290140.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 529,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.1623C>T",
"hgvs_p": null,
"transcript": "ENST00000564113.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 2114,
"mane_select": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.170C>T",
"hgvs_p": null,
"transcript": "ENST00000564882.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 452,
"mane_select": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.311C>T",
"hgvs_p": null,
"transcript": "ENST00000564904.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 468,
"mane_select": null,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*1320C>T",
"hgvs_p": null,
"transcript": "ENST00000651300.1",
"protein_id": "ENSP00000498294.1",
"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": 2706,
"mane_select": null,
"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": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*584C>T",
"hgvs_p": null,
"transcript": "ENST00000651348.1",
"protein_id": "ENSP00000498315.1",
"transcript_support_level": null,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4",
"pathogenicity_classification_combined": "Uncertain significance",
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}
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}