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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: 12-119690180-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690180&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119690180,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001206999.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6157G>T",
"hgvs_p": "p.Val2053Leu",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 2053,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6157,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6242,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6157G>T",
"hgvs_p": "p.Val2053Leu",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 2053,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6157,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6242,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6031G>T",
"hgvs_p": "p.Val2011Leu",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2027,
"cds_start": 6031,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 8578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6031G>T",
"hgvs_p": "p.Val2011Leu",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2027,
"cds_start": 6031,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 6116,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4867G>T",
"hgvs_p": "p.Val1623Leu",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1623,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4867,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4869,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4801G>T",
"hgvs_p": "p.Val1601Leu",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4801,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 5129,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4774G>T",
"hgvs_p": "p.Val1592Leu",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 5110,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4774G>T",
"hgvs_p": "p.Val1592Leu",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 5137,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4759G>T",
"hgvs_p": "p.Val1587Leu",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4759,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5346,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4648G>T",
"hgvs_p": "p.Val1550Leu",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4648,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4561G>T",
"hgvs_p": "p.Val1521Leu",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4561,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 4889,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6202G>T",
"hgvs_p": "p.Val2068Leu",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6202,
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"cds_length": 6255,
"cdna_start": 6287,
"cdna_end": null,
"cdna_length": 8781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6199G>T",
"hgvs_p": "p.Val2067Leu",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 2067,
"aa_end": null,
"aa_length": 2083,
"cds_start": 6199,
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"cds_length": 6252,
"cdna_start": 6284,
"cdna_end": null,
"cdna_length": 8778,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6157G>T",
"hgvs_p": "p.Val2053Leu",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6154G>T",
"hgvs_p": "p.Val2052Leu",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 2052,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6154,
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"cdna_start": 6239,
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"cdna_length": 8733,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6154G>T",
"hgvs_p": "p.Val2052Leu",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6112G>T",
"hgvs_p": "p.Val2038Leu",
"transcript": "XM_006719206.3",
"protein_id": "XP_006719269.1",
"transcript_support_level": null,
"aa_start": 2038,
"aa_end": null,
"aa_length": 2054,
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"cdna_start": 6197,
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"cdna_length": 8691,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6109G>T",
"hgvs_p": "p.Val2037Leu",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
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"cds_start": 6109,
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"cdna_start": 6194,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 46,
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"intron_rank": null,
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"gene_symbol": "CIT",
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"hgvs_c": "c.6028G>T",
"hgvs_p": "p.Val2010Leu",
"transcript": "XM_047428134.1",
"protein_id": "XP_047284090.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 46,
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"gene_symbol": "CIT",
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"hgvs_c": "c.5986G>T",
"hgvs_p": "p.Val1996Leu",
"transcript": "XM_011537787.2",
"protein_id": "XP_011536089.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 46,
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"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5983G>T",
"hgvs_p": "p.Val1995Leu",
"transcript": "XM_011537788.2",
"protein_id": "XP_011536090.1",
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"aa_start": 1995,
"aa_end": null,
"aa_length": 2011,
"cds_start": 5983,
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"cds_length": 6036,
"cdna_start": 6068,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4864G>T",
"hgvs_p": "p.Val1622Leu",
"transcript": "XM_011537789.2",
"protein_id": "XP_011536091.1",
"transcript_support_level": null,
"aa_start": 1622,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4864,
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"cds_length": 4917,
"cdna_start": 5433,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
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