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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: 11-31789935-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31789935&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31789935,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001368911.2",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "NM_001368894.2",
"protein_id": "NP_001355823.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640368.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368894.2"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "ENST00000640368.2",
"protein_id": "ENSP00000492024.1",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368894.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640368.2"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "ENST00000419022.6",
"protein_id": "ENSP00000404100.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419022.6"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "ENST00000638914.3",
"protein_id": "ENSP00000492315.2",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638914.3"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "ENST00000639409.1",
"protein_id": "ENSP00000492476.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639409.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.Ter437Leuext*?",
"transcript": "ENST00000640975.1",
"protein_id": "ENSP00000491872.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640975.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Ter423Leuext*?",
"transcript": "ENST00000241001.13",
"protein_id": "ENSP00000241001.8",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 422,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241001.13"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Ter423Leuext*?",
"transcript": "ENST00000639916.1",
"protein_id": "ENSP00000490963.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 422,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639916.1"
},
{
"aa_ref": "*",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Ter423Leuext*?",
"transcript": "ENST00000640610.1",
"protein_id": "ENSP00000491295.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 422,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.*6411T>A",
"hgvs_p": null,
"transcript": "NM_019040.5",
"protein_id": "NP_061913.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019040.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.*6411T>A",
"hgvs_p": null,
"transcript": "ENST00000640961.2",
"protein_id": "ENSP00000492152.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019040.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640961.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1162A>T",
"hgvs_p": "p.Lys388*",
"transcript": "NM_001368911.2",
"protein_id": "NP_001355840.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 488,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368911.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1159A>T",
"hgvs_p": "p.Lys387*",
"transcript": "NM_001368912.2",
"protein_id": "NP_001355841.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 487,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368912.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1159A>T",
"hgvs_p": "p.Lys387*",
"transcript": "NM_001368913.2",
"protein_id": "NP_001355842.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 487,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368913.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1159A>T",
"hgvs_p": "p.Lys387*",
"transcript": "NM_001368914.2",
"protein_id": "NP_001355843.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 487,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368914.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1117A>T",
"hgvs_p": "p.Lys373*",
"transcript": "NM_001368915.2",
"protein_id": "NP_001355844.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 473,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368915.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1117A>T",
"hgvs_p": "p.Lys373*",
"transcript": "NM_001368916.2",
"protein_id": "NP_001355845.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 473,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368916.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1117A>T",
"hgvs_p": "p.Lys373*",
"transcript": "NM_001368917.2",
"protein_id": "NP_001355846.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 473,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368917.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.1117A>T",
"hgvs_p": "p.Lys373*",
"transcript": "ENST00000638963.1",
"protein_id": "ENSP00000491948.1",
"transcript_support_level": 5,
"aa_start": 373,
"aa_end": null,
"aa_length": 473,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638963.1"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.958A>T",
"hgvs_p": "p.Lys320*",
"transcript": "NM_001368921.2",
"protein_id": "NP_001355850.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 420,
"cds_start": 958,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368921.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Lys237*",
"transcript": "NM_001368929.2",
"protein_id": "NP_001355858.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 337,
"cds_start": 709,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368929.2"
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX6",
"gene_hgnc_id": 8620,
"hgvs_c": "c.604A>T",
"hgvs_p": "p.Lys202*",
"transcript": "ENST00000638685.1",
"protein_id": "ENSP00000492316.1",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 302,
"cds_start": 604,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"clinvar_disease": "8 conditions,Aniridia 1,Foveal hypoplasia 1,Hypertelorism,Irido-corneo-trabecular dysgenesis,Nystagmus,Visual impairment,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:3",
"phenotype_combined": "Aniridia 1|not provided|Nystagmus;Visual impairment;Hypertelorism|8 conditions|Irido-corneo-trabecular dysgenesis;Aniridia 1|Foveal hypoplasia 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}