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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: 6-43450652-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43450652&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43450652,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_023932.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "NM_023932.4",
"protein_id": "NP_076421.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "ENST00000372488.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023932.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "ENST00000372488.8",
"protein_id": "ENSP00000361566.3",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "NM_023932.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372488.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "NM_206539.2",
"protein_id": "NP_996262.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206539.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "ENST00000357338.3",
"protein_id": "ENSP00000349893.3",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357338.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "ENST00000854537.1",
"protein_id": "ENSP00000524596.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854537.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1039C>G",
"hgvs_p": "p.Pro347Ala",
"transcript": "ENST00000952222.1",
"protein_id": "ENSP00000622281.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 383,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952222.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Pro341Ala",
"transcript": "NM_001286656.2",
"protein_id": "NP_001273585.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 377,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286656.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Pro341Ala",
"transcript": "ENST00000372485.5",
"protein_id": "ENSP00000361563.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 377,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372485.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Pro341Ala",
"transcript": "ENST00000854535.1",
"protein_id": "ENSP00000524594.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 377,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854535.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Pro341Ala",
"transcript": "ENST00000854538.1",
"protein_id": "ENSP00000524597.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 377,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854538.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Pro341Ala",
"transcript": "ENST00000952223.1",
"protein_id": "ENSP00000622282.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 377,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952223.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.928C>G",
"hgvs_p": "p.Pro310Ala",
"transcript": "NM_001286655.1",
"protein_id": "NP_001273584.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 346,
"cds_start": 928,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286655.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.928C>G",
"hgvs_p": "p.Pro310Ala",
"transcript": "ENST00000854536.1",
"protein_id": "ENSP00000524595.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 346,
"cds_start": 928,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854536.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000430324.5",
"protein_id": "ENSP00000399829.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 288,
"cds_start": 754,
"cds_end": null,
"cds_length": 867,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430324.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Pro440Ala",
"transcript": "XM_005249308.6",
"protein_id": "XP_005249365.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 476,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249308.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Pro409Ala",
"transcript": "XM_011514823.4",
"protein_id": "XP_011513125.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 445,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514823.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "XM_047419263.1",
"protein_id": "XP_047275219.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 352,
"cds_start": 946,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419263.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Pro316Ala",
"transcript": "XM_047419264.1",
"protein_id": "XP_047275220.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 352,
"cds_start": 946,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419264.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Pro313Ala",
"transcript": "XM_047419265.1",
"protein_id": "XP_047275221.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 349,
"cds_start": 937,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*13+1118G>C",
"hgvs_p": null,
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*13+1118G>C",
"hgvs_p": null,
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": null,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.4828+328G>C",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4927,
"mane_select": null,
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],
"verdict": "Uncertain_significance",
"transcript": "XR_007059383.1",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4828+328G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}