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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: 12-103994469-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103994469&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103994469,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001384712.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384711.1",
"protein_id": "NP_001371640.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360814.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384711.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000360814.9",
"protein_id": "ENSP00000354053.4",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384711.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360814.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.702G>C",
"hgvs_p": "p.Lys234Asn",
"transcript": "ENST00000951197.1",
"protein_id": "ENSP00000621256.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 372,
"cds_start": 702,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951197.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.648G>C",
"hgvs_p": "p.Lys216Asn",
"transcript": "NM_001384712.1",
"protein_id": "NP_001371641.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 354,
"cds_start": 648,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384712.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001316967.2",
"protein_id": "NP_001303896.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316967.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384713.1",
"protein_id": "NP_001371642.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384713.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384715.1",
"protein_id": "NP_001371644.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384715.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384716.1",
"protein_id": "NP_001371645.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384716.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384717.1",
"protein_id": "NP_001371646.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384717.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384718.1",
"protein_id": "NP_001371647.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384718.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384719.1",
"protein_id": "NP_001371648.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384719.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384720.1",
"protein_id": "NP_001371649.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384720.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384721.1",
"protein_id": "NP_001371650.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384721.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_001384722.1",
"protein_id": "NP_001371651.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384722.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "NM_031302.5",
"protein_id": "NP_112592.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031302.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000546436.5",
"protein_id": "ENSP00000449750.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546436.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000548660.5",
"protein_id": "ENSP00000447450.1",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548660.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000879067.1",
"protein_id": "ENSP00000549126.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879067.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000879068.1",
"protein_id": "ENSP00000549127.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879068.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000879069.1",
"protein_id": "ENSP00000549128.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879069.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000879070.1",
"protein_id": "ENSP00000549129.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879070.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLT8D2",
"gene_hgnc_id": 24890,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Lys211Asn",
"transcript": "ENST00000911621.1",
"protein_id": "ENSP00000581680.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 349,
"cds_start": 633,
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"acmg_classification": "Uncertain_significance",
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{
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"criteria": [],
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"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
}