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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: 14-58498823-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58498823&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58498823,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000652326.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4032delA",
"hgvs_p": "p.Arg1344fs",
"transcript": "NM_001329943.3",
"protein_id": "NP_001316872.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 4578,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "ENST00000652326.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4032delA",
"hgvs_p": "p.Arg1344fs",
"transcript": "ENST00000652326.2",
"protein_id": "ENSP00000498929.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 4578,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "NM_001329943.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3987delA",
"hgvs_p": "p.Arg1329fs",
"transcript": "ENST00000619416.4",
"protein_id": "ENSP00000478083.1",
"transcript_support_level": 1,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3987,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 4261,
"cdna_end": null,
"cdna_length": 8233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3900delA",
"hgvs_p": "p.Arg1300fs",
"transcript": "ENST00000423743.7",
"protein_id": "ENSP00000399427.3",
"transcript_support_level": 1,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3900,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 4158,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3804delA",
"hgvs_p": "p.Arg1268fs",
"transcript": "ENST00000261244.9",
"protein_id": "ENSP00000261244.5",
"transcript_support_level": 1,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3804,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4191delA",
"hgvs_p": "p.Arg1397fs",
"transcript": "NM_001244189.2",
"protein_id": "NP_001231118.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4191,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 4420,
"cdna_end": null,
"cdna_length": 8485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4191delA",
"hgvs_p": "p.Arg1397fs",
"transcript": "ENST00000354386.10",
"protein_id": "ENSP00000346359.6",
"transcript_support_level": 2,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4191,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 4435,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4032delA",
"hgvs_p": "p.Arg1344fs",
"transcript": "NM_001329944.2",
"protein_id": "NP_001316873.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4776,
"cdna_start": 4578,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3987delA",
"hgvs_p": "p.Arg1329fs",
"transcript": "NM_001244190.2",
"protein_id": "NP_001231119.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3987,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 4263,
"cdna_end": null,
"cdna_length": 8243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.4032delA",
"hgvs_p": "p.Arg1344fs",
"transcript": "NM_001329946.2",
"protein_id": "NP_001316875.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4578,
"cdna_end": null,
"cdna_length": 8492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3951delA",
"hgvs_p": "p.Arg1317fs",
"transcript": "ENST00000650904.1",
"protein_id": "ENSP00000498606.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3951,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 4523,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3900delA",
"hgvs_p": "p.Arg1300fs",
"transcript": "NM_001244192.2",
"protein_id": "NP_001231121.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3900,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 8174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3900delA",
"hgvs_p": "p.Arg1300fs",
"transcript": "NM_001329947.2",
"protein_id": "NP_001316876.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3900,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 4446,
"cdna_end": null,
"cdna_length": 8426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3804delA",
"hgvs_p": "p.Arg1268fs",
"transcript": "NM_014749.5",
"protein_id": "NP_055564.3",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3804,
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"cdna_start": 4350,
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"cdna_length": 8330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3777delA",
"hgvs_p": "p.Arg1259fs",
"transcript": "NM_001244191.2",
"protein_id": "NP_001231120.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3777,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4071,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3777delA",
"hgvs_p": "p.Arg1259fs",
"transcript": "NM_001364701.2",
"protein_id": "NP_001351630.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
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"cds_start": 3777,
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"cdna_start": 3928,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3777delA",
"hgvs_p": "p.Arg1259fs",
"transcript": "ENST00000619722.5",
"protein_id": "ENSP00000481936.1",
"transcript_support_level": 2,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3777,
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"cds_length": 4392,
"cdna_start": 4045,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3777delA",
"hgvs_p": "p.Arg1259fs",
"transcript": "NM_001329945.2",
"protein_id": "NP_001316874.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3777,
"cds_end": null,
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"cdna_start": 3928,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3777delA",
"hgvs_p": "p.Arg1259fs",
"transcript": "NM_001364700.1",
"protein_id": "NP_001351629.1",
"transcript_support_level": null,
"aa_start": 1259,
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"cds_start": 3777,
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"cdna_start": 3928,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3612delA",
"hgvs_p": "p.Arg1204fs",
"transcript": "NM_001244193.2",
"protein_id": "NP_001231122.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3612,
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"cdna_start": 3722,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2136delA",
"hgvs_p": "p.Arg712fs",
"transcript": "ENST00000652414.1",
"protein_id": "ENSP00000498397.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 854,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1551delA",
"hgvs_p": "p.Arg517fs",
"transcript": "ENST00000651852.1",
"protein_id": "ENSP00000498990.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 764,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
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],
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{
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"clinvar_disease": "Joubert syndrome 23,Joubert syndrome and related disorders",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Joubert syndrome and related disorders|Joubert syndrome 23",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}