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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: 1-160351275-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160351275&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160351275,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000294785.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "NM_015331.3",
"protein_id": "NP_056146.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 709,
"cds_start": 636,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "ENST00000294785.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "ENST00000294785.10",
"protein_id": "ENSP00000294785.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 709,
"cds_start": 636,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": "NM_015331.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*565A>G",
"hgvs_p": null,
"transcript": "ENST00000368063.6",
"protein_id": "ENSP00000357042.2",
"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": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.*565A>G",
"hgvs_p": null,
"transcript": "ENST00000368063.6",
"protein_id": "ENSP00000357042.2",
"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": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.576A>G",
"hgvs_p": "p.Leu192Leu",
"transcript": "NM_001290184.2",
"protein_id": "NP_001277113.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 689,
"cds_start": 576,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "ENST00000699538.1",
"protein_id": "ENSP00000514423.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 674,
"cds_start": 636,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.531A>G",
"hgvs_p": "p.Leu177Leu",
"transcript": "ENST00000699553.1",
"protein_id": "ENSP00000514430.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 674,
"cds_start": 531,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "NM_001349729.2",
"protein_id": "NP_001336658.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 638,
"cds_start": 636,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "ENST00000699528.1",
"protein_id": "ENSP00000514420.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 571,
"cds_start": 636,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Leu212Leu",
"transcript": "XM_005245053.6",
"protein_id": "XP_005245110.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 395,
"cds_start": 636,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.739A>G",
"hgvs_p": null,
"transcript": "ENST00000699526.1",
"protein_id": null,
"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": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.636A>G",
"hgvs_p": null,
"transcript": "ENST00000699527.1",
"protein_id": "ENSP00000514419.1",
"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": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699529.1",
"protein_id": null,
"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": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.658A>G",
"hgvs_p": null,
"transcript": "ENST00000699530.1",
"protein_id": "ENSP00000514421.1",
"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": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699531.1",
"protein_id": null,
"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": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.636A>G",
"hgvs_p": null,
"transcript": "ENST00000699532.1",
"protein_id": "ENSP00000514422.1",
"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": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699535.1",
"protein_id": null,
"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": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699536.1",
"protein_id": null,
"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": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699539.1",
"protein_id": null,
"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": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.636A>G",
"hgvs_p": null,
"transcript": "ENST00000699541.1",
"protein_id": "ENSP00000514425.1",
"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": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699542.1",
"protein_id": null,
"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": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.636A>G",
"hgvs_p": null,
"transcript": "ENST00000699543.1",
"protein_id": "ENSP00000514426.1",
"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": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCSTN",
"gene_hgnc_id": 17091,
"hgvs_c": "n.717A>G",
"hgvs_p": null,
"transcript": "ENST00000699548.1",
"protein_id": null,
"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,
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{
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}