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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: 19-10351837-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10351837&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10351837,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000525621.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null,
"transcript": "NM_003331.5",
"protein_id": "NP_003322.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "ENST00000525621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null,
"transcript": "ENST00000525621.6",
"protein_id": "ENSP00000431885.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": "NM_003331.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.2763+597G>C",
"hgvs_p": null,
"transcript": "ENST00000524462.5",
"protein_id": "ENSP00000433203.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": -4,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3528+597G>C",
"hgvs_p": null,
"transcript": "NM_001385204.1",
"protein_id": "NP_001372133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3399+597G>C",
"hgvs_p": null,
"transcript": "NM_001385203.1",
"protein_id": "NP_001372132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null,
"transcript": "NM_001406461.1",
"protein_id": "NP_001393390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null,
"transcript": "ENST00000531836.7",
"protein_id": "ENSP00000436175.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3315+597G>C",
"hgvs_p": null,
"transcript": "NM_001385200.1",
"protein_id": "NP_001372129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3300+597G>C",
"hgvs_p": null,
"transcript": "NM_001385207.1",
"protein_id": "NP_001372136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3276+597G>C",
"hgvs_p": null,
"transcript": "ENST00000699360.1",
"protein_id": "ENSP00000514331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
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"cdna_length": 4201,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3234+597G>C",
"hgvs_p": null,
"transcript": "NM_001385202.1",
"protein_id": "NP_001372131.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1159,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 23,
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"gene_symbol": "TYK2",
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"hgvs_c": "c.3228+597G>C",
"hgvs_p": null,
"transcript": "NM_001385205.1",
"protein_id": "NP_001372134.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 23,
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"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null,
"transcript": "NM_001385197.1",
"protein_id": "NP_001372126.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 23,
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"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3318+597G>C",
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"transcript": "ENST00000525976.6",
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},
{
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],
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"gene_symbol": "TYK2",
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"hgvs_c": "c.3192+597G>C",
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"transcript": "NM_001385206.1",
"protein_id": "NP_001372135.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 22,
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"gene_symbol": "TYK2",
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"hgvs_c": "c.3169-675G>C",
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"transcript": "NM_001385198.1",
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},
{
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],
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"gene_symbol": "TYK2",
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"hgvs_c": "c.3132+597G>C",
"hgvs_p": null,
"transcript": "NM_001385199.1",
"protein_id": "NP_001372128.1",
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 22,
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"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.3120+597G>C",
"hgvs_p": null,
"transcript": "NM_001385201.1",
"protein_id": "NP_001372130.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "c.387+597G>C",
"hgvs_p": null,
"transcript": "ENST00000699365.1",
"protein_id": "ENSP00000514334.1",
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},
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],
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"gene_symbol": "TYK2",
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"hgvs_c": "c.338-869G>C",
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"transcript": "ENST00000530560.5",
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},
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"strand": false,
"consequences": [
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],
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"gene_symbol": "TYK2",
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"hgvs_c": "n.*1668-353G>C",
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"transcript": "ENST00000524470.2",
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},
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "n.*88+597G>C",
"hgvs_p": null,
"transcript": "ENST00000527481.3",
"protein_id": "ENSP00000466340.2",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TYK2",
"gene_hgnc_id": 12440,
"hgvs_c": "n.4694+597G>C",
"hgvs_p": null,
"transcript": "ENST00000529370.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"mane_select": null,
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"feature": null
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000525621.6",
"gene_symbol": "TYK2",
"hgnc_id": 12440,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3318+597G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}