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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: 9-14819372-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14819372&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14819372,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380880.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "NM_001379081.2",
"protein_id": "NP_001366010.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "ENST00000380880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "ENST00000380880.4",
"protein_id": "ENSP00000370262.3",
"transcript_support_level": 5,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "NM_001379081.2",
"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": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.2408C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "NM_144966.7",
"protein_id": "NP_659403.4",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014316.3",
"protein_id": "XP_016869805.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014319.3",
"protein_id": "XP_016869808.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014320.3",
"protein_id": "XP_016869809.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3346,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014321.3",
"protein_id": "XP_016869810.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014322.2",
"protein_id": "XP_016869811.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_047422844.1",
"protein_id": "XP_047278800.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_047422845.1",
"protein_id": "XP_047278801.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2188,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 3515,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "XM_047422846.1",
"protein_id": "XP_047278802.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 2982,
"cdna_end": null,
"cdna_length": 7358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "XM_047422847.1",
"protein_id": "XP_047278803.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ser803Cys",
"transcript": "XM_047422848.1",
"protein_id": "XP_047278804.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 2179,
"cds_start": 2408,
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"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014324.3",
"protein_id": "XP_016869813.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2138,
"cds_start": 2435,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014325.3",
"protein_id": "XP_016869814.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 2099,
"cds_start": 2435,
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"cdna_start": 3217,
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"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Ser676Cys",
"transcript": "XM_017014326.2",
"protein_id": "XP_016869815.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 2052,
"cds_start": 2027,
"cds_end": null,
"cds_length": 6159,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.1511C>G",
"hgvs_p": "p.Ser504Cys",
"transcript": "XM_017014327.3",
"protein_id": "XP_016869816.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1880,
"cds_start": 1511,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014328.3",
"protein_id": "XP_016869817.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
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"cds_start": 2435,
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"cdna_start": 3217,
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"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_017014329.3",
"protein_id": "XP_016869818.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1816,
"cds_start": 2435,
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"cds_length": 5451,
"cdna_start": 3217,
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"cdna_length": 9449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_047422849.1",
"protein_id": "XP_047278805.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2435,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2435C>G",
"hgvs_p": "p.Ser812Cys",
"transcript": "XM_047422850.1",
"protein_id": "XP_047278806.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1491,
"cds_start": 2435,
"cds_end": null,
"cds_length": 4476,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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}