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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: 16-14627304-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14627304&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14627304,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000437198.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "NM_002582.4",
"protein_id": "NP_002573.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 639,
"cds_start": 210,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000437198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000437198.7",
"protein_id": "ENSP00000387911.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 639,
"cds_start": 210,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_002582.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000650990.1",
"protein_id": "ENSP00000498741.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 664,
"cds_start": 210,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000697474.1",
"protein_id": "ENSP00000513329.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 659,
"cds_start": 210,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000650960.1",
"protein_id": "ENSP00000499110.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 590,
"cds_start": 210,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000651049.1",
"protein_id": "ENSP00000498644.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 585,
"cds_start": 210,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000652727.1",
"protein_id": "ENSP00000498650.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 581,
"cds_start": 210,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Gly9Gly",
"transcript": "NM_001134477.3",
"protein_id": "NP_001127949.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 578,
"cds_start": 27,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Gly9Gly",
"transcript": "ENST00000341484.11",
"protein_id": "ENSP00000345456.7",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 578,
"cds_start": 27,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000651634.1",
"protein_id": "ENSP00000499078.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 577,
"cds_start": 210,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000651027.1",
"protein_id": "ENSP00000498640.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 524,
"cds_start": 210,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "ENST00000652501.1",
"protein_id": "ENSP00000498261.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 499,
"cds_start": 210,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.159C>T",
"hgvs_p": "p.Gly53Gly",
"transcript": "ENST00000651913.1",
"protein_id": "ENSP00000498230.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 486,
"cds_start": 159,
"cds_end": null,
"cds_length": 1462,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Gly94Gly",
"transcript": "ENST00000562896.1",
"protein_id": "ENSP00000456982.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 108,
"cds_start": 282,
"cds_end": null,
"cds_length": 329,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "XM_047434181.1",
"protein_id": "XP_047290137.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 590,
"cds_start": 210,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "XM_047434182.1",
"protein_id": "XP_047290138.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 590,
"cds_start": 210,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Gly9Gly",
"transcript": "XM_047434183.1",
"protein_id": "XP_047290139.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 529,
"cds_start": 27,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.27C>T",
"hgvs_p": "p.Gly9Gly",
"transcript": "XM_047434184.1",
"protein_id": "XP_047290140.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 529,
"cds_start": 27,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "XM_011522514.3",
"protein_id": "XP_011520816.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 426,
"cds_start": 210,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"transcript": "XM_047434185.1",
"protein_id": "XP_047290141.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 310,
"cds_start": 210,
"cds_end": null,
"cds_length": 933,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1172,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.210C>T",
"hgvs_p": null,
"transcript": "ENST00000538472.5",
"protein_id": "ENSP00000445659.1",
"transcript_support_level": 2,
"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": 808,
"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": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.320C>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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.336C>T",
"hgvs_p": null,
"transcript": "ENST00000566021.1",
"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,
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"phylop100way_score": 1.749,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437198.7",
"gene_symbol": "PARN",
"hgnc_id": 8609,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}