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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: 13-75713222-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75713222&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75713222,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001306080.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "NM_001306080.2",
"protein_id": "NP_001293009.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1631,
"cds_start": 110,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377534.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306080.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000377534.8",
"protein_id": "ENSP00000366757.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 1631,
"cds_start": 110,
"cds_end": null,
"cds_length": 4896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001306080.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377534.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Ala89Asp",
"transcript": "ENST00000341547.8",
"protein_id": "ENSP00000342112.4",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 1349,
"cds_start": 266,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341547.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.221C>A",
"hgvs_p": "p.Ala74Asp",
"transcript": "ENST00000357063.7",
"protein_id": "ENSP00000349571.4",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1668,
"cds_start": 221,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357063.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000715261.1",
"protein_id": "ENSP00000520431.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1645,
"cds_start": 110,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715261.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Ala89Asp",
"transcript": "NM_005358.5",
"protein_id": "NP_005349.3",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1349,
"cds_start": 266,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005358.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891628.1",
"protein_id": "ENSP00000561687.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1324,
"cds_start": 110,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891628.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891625.1",
"protein_id": "ENSP00000561684.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1314,
"cds_start": 110,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891625.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891627.1",
"protein_id": "ENSP00000561686.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1314,
"cds_start": 110,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891627.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000525107.7",
"protein_id": "ENSP00000435296.3",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 1311,
"cds_start": 110,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525107.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891623.1",
"protein_id": "ENSP00000561682.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1297,
"cds_start": 110,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891623.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891624.1",
"protein_id": "ENSP00000561683.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1287,
"cds_start": 110,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891624.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000891626.1",
"protein_id": "ENSP00000561685.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1287,
"cds_start": 110,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891626.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.110C>A",
"hgvs_p": "p.Ala37Asp",
"transcript": "ENST00000377499.9",
"protein_id": "ENSP00000366719.5",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 1044,
"cds_start": 110,
"cds_end": null,
"cds_length": 3137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377499.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430323.1",
"protein_id": "XP_047286279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1507,
"cds_start": null,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430307.1",
"protein_id": "XP_047286263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1493,
"cds_start": null,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430308.1",
"protein_id": "XP_047286264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1488,
"cds_start": null,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430309.1",
"protein_id": "XP_047286265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1480,
"cds_start": null,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430309.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430310.1",
"protein_id": "XP_047286266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1474,
"cds_start": null,
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"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430311.1",
"protein_id": "XP_047286267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1466,
"cds_start": null,
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"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430312.1",
"protein_id": "XP_047286268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": null,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMO7",
"gene_hgnc_id": 6646,
"hgvs_c": "c.-590C>A",
"hgvs_p": null,
"transcript": "XM_047430329.1",
"protein_id": "XP_047286285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430329.1"
},
{
"aa_ref": null,
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"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.745C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}