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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: 9-14770660-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14770660&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14770660,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_144966.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "NM_001379081.2",
"protein_id": "NP_001366010.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5786,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "ENST00000380880.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379081.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "ENST00000380880.4",
"protein_id": "ENSP00000370262.3",
"transcript_support_level": 5,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5786,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "NM_001379081.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380880.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ile204Ile",
"transcript": "ENST00000380894.5",
"protein_id": "ENSP00000370278.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 715,
"cds_start": 612,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.3982-20384C>A",
"hgvs_p": null,
"transcript": "ENST00000380875.7",
"protein_id": "ENSP00000370257.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000380875.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "NM_144966.7",
"protein_id": "NP_659403.4",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5820,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144966.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "ENST00000895028.1",
"protein_id": "ENSP00000565087.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5839,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895028.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ile204Ile",
"transcript": "NM_001177704.3",
"protein_id": "NP_001171175.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 715,
"cds_start": 612,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177704.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ile204Ile",
"transcript": "NM_001370061.2",
"protein_id": "NP_001356990.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 715,
"cds_start": 612,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370061.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.612C>A",
"hgvs_p": "p.Ile204Ile",
"transcript": "NM_001370058.2",
"protein_id": "NP_001356987.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 612,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370058.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014316.3",
"protein_id": "XP_016869805.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014316.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014319.3",
"protein_id": "XP_016869808.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 6015,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014319.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014320.3",
"protein_id": "XP_016869809.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 5942,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014320.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014321.3",
"protein_id": "XP_016869810.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 5605,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014321.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014322.2",
"protein_id": "XP_016869811.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 5572,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014322.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_047422844.1",
"protein_id": "XP_047278800.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 5847,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422844.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_047422845.1",
"protein_id": "XP_047278801.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2188,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 6111,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422845.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "XM_047422846.1",
"protein_id": "XP_047278802.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5578,
"cdna_end": null,
"cdna_length": 7358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422846.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "XM_047422847.1",
"protein_id": "XP_047278803.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5545,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422847.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5004C>A",
"hgvs_p": "p.Ile1668Ile",
"transcript": "XM_047422848.1",
"protein_id": "XP_047278804.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5004,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5915,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422848.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014324.3",
"protein_id": "XP_016869813.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014324.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5031C>A",
"hgvs_p": "p.Ile1677Ile",
"transcript": "XM_017014325.3",
"protein_id": "XP_016869814.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 2099,
"cds_start": 5031,
"cds_end": null,
"cds_length": 6300,
"cdna_start": 5813,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014325.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.4623C>A",
"hgvs_p": "p.Ile1541Ile",
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"phenotype_combined": "not specified|Oculotrichoanal syndrome|not provided",
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}
],
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}