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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: 12-63569344-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63569344&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 63569344,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173812.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669Gln",
"transcript": "NM_173812.5",
"protein_id": "NP_776173.3",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 758,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324472.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173812.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669Gln",
"transcript": "ENST00000324472.9",
"protein_id": "ENSP00000315988.4",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 758,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173812.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324472.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649Gln",
"transcript": "ENST00000882292.1",
"protein_id": "ENSP00000552351.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 738,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882292.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "ENST00000961037.1",
"protein_id": "ENSP00000631096.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 734,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961037.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"transcript": "ENST00000961030.1",
"protein_id": "ENSP00000631089.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 714,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961030.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1802G>A",
"hgvs_p": "p.Arg601Gln",
"transcript": "ENST00000882293.1",
"protein_id": "ENSP00000552352.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 690,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882293.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"transcript": "ENST00000961032.1",
"protein_id": "ENSP00000631091.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 684,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961032.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Arg575Gln",
"transcript": "ENST00000961033.1",
"protein_id": "ENSP00000631092.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 664,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961033.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330Gln",
"transcript": "ENST00000961036.1",
"protein_id": "ENSP00000631095.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 419,
"cds_start": 989,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961036.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649Gln",
"transcript": "XM_024448944.2",
"protein_id": "XP_024304712.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 738,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448944.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669Gln",
"transcript": "XM_047428721.1",
"protein_id": "XP_047284677.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 724,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428721.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619Gln",
"transcript": "XM_017019192.3",
"protein_id": "XP_016874681.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 708,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019192.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568Gln",
"transcript": "XM_017019193.3",
"protein_id": "XP_016874682.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 657,
"cds_start": 1703,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019193.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "XM_024448946.2",
"protein_id": "XP_024304714.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 615,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448946.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "XM_024448947.2",
"protein_id": "XP_024304715.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 615,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448947.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "XM_047428722.1",
"protein_id": "XP_047284678.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 615,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428722.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498Gln",
"transcript": "XM_011538215.3",
"protein_id": "XP_011536517.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 587,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538215.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "XM_047428728.1",
"protein_id": "XP_047284684.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 443,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428728.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"transcript": "XM_011538218.4",
"protein_id": "XP_011536520.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 421,
"cds_start": 995,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538218.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ser562Ser",
"transcript": "XM_047428725.1",
"protein_id": "XP_047284681.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 570,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.*37G>A",
"hgvs_p": null,
"transcript": "XM_047428723.1",
"protein_id": "XP_047284679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428723.1"
},
{
"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": 20,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2000+1414G>A",
"hgvs_p": null,
"transcript": "ENST00000882290.1",
"protein_id": "ENSP00000552349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": null,
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}
],
"message": null
}