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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: 12-63582515-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63582515&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 63582515,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173812.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "NM_173812.5",
"protein_id": "NP_776173.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 758,
"cds_start": 1616,
"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": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000324472.9",
"protein_id": "ENSP00000315988.4",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 758,
"cds_start": 1616,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.His519Arg",
"transcript": "ENST00000882292.1",
"protein_id": "ENSP00000552351.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 738,
"cds_start": 1556,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1544A>G",
"hgvs_p": "p.His515Arg",
"transcript": "ENST00000961037.1",
"protein_id": "ENSP00000631096.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 734,
"cds_start": 1544,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000882290.1",
"protein_id": "ENSP00000552349.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 716,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882290.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.His495Arg",
"transcript": "ENST00000961030.1",
"protein_id": "ENSP00000631089.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 714,
"cds_start": 1484,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.His519Arg",
"transcript": "ENST00000882291.1",
"protein_id": "ENSP00000552350.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 696,
"cds_start": 1556,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882291.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1544A>G",
"hgvs_p": "p.His515Arg",
"transcript": "ENST00000961035.1",
"protein_id": "ENSP00000631094.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 692,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961035.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1412A>G",
"hgvs_p": "p.His471Arg",
"transcript": "ENST00000882293.1",
"protein_id": "ENSP00000552352.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 690,
"cds_start": 1412,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.His465Arg",
"transcript": "ENST00000961032.1",
"protein_id": "ENSP00000631091.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 684,
"cds_start": 1394,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.His495Arg",
"transcript": "ENST00000961031.1",
"protein_id": "ENSP00000631090.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 672,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961031.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1334A>G",
"hgvs_p": "p.His445Arg",
"transcript": "ENST00000961033.1",
"protein_id": "ENSP00000631092.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 664,
"cds_start": 1334,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.His200Arg",
"transcript": "ENST00000961036.1",
"protein_id": "ENSP00000631095.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 419,
"cds_start": 599,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.His200Arg",
"transcript": "ENST00000961034.1",
"protein_id": "ENSP00000631093.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 377,
"cds_start": 599,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961034.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.His519Arg",
"transcript": "XM_024448944.2",
"protein_id": "XP_024304712.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 738,
"cds_start": 1556,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "XM_047428721.1",
"protein_id": "XP_047284677.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 724,
"cds_start": 1616,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "XM_024448945.2",
"protein_id": "XP_024304713.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 716,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448945.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.His489Arg",
"transcript": "XM_017019192.3",
"protein_id": "XP_016874681.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 708,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019192.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1313A>G",
"hgvs_p": "p.His438Arg",
"transcript": "XM_017019193.3",
"protein_id": "XP_016874682.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 657,
"cds_start": 1313,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.His396Arg",
"transcript": "XM_024448946.2",
"protein_id": "XP_024304714.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 615,
"cds_start": 1187,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.His396Arg",
"transcript": "XM_024448947.2",
"protein_id": "XP_024304715.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 615,
"cds_start": 1187,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.His396Arg",
"transcript": "XM_047428722.1",
"protein_id": "XP_047284678.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 615,
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{
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],
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],
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"phenotype_combined": "Spermatogenic failure 9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}