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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: 5-77211229-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77211229&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 77211229,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000264917.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_003719.5",
"protein_id": "NP_003710.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 885,
"cds_start": 304,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": "ENST00000264917.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "ENST00000264917.10",
"protein_id": "ENSP00000264917.6",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 885,
"cds_start": 304,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": "NM_003719.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "ENST00000342343.8",
"protein_id": "ENSP00000345646.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 865,
"cds_start": 304,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "ENST00000340978.7",
"protein_id": "ENSP00000345446.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 838,
"cds_start": 304,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "ENST00000333194.8",
"protein_id": "ENSP00000331336.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 830,
"cds_start": 304,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "ENST00000346042.7",
"protein_id": "ENSP00000330428.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 788,
"cds_start": 304,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": null,
"hgvs_c": "c.-34+92708G>T",
"hgvs_p": null,
"transcript": "ENST00000646262.1",
"protein_id": "ENSP00000493971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001349749.3",
"protein_id": "NP_001336678.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 906,
"cds_start": 304,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001349748.3",
"protein_id": "NP_001336677.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 884,
"cds_start": 304,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001376063.1",
"protein_id": "NP_001362992.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 882,
"cds_start": 304,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001029853.4",
"protein_id": "NP_001025024.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 865,
"cds_start": 304,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001029854.4",
"protein_id": "NP_001025025.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 838,
"cds_start": 304,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001376064.1",
"protein_id": "NP_001362993.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 835,
"cds_start": 304,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001029852.4",
"protein_id": "NP_001025023.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 830,
"cds_start": 304,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001349751.3",
"protein_id": "NP_001336680.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 812,
"cds_start": 304,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001029851.4",
"protein_id": "NP_001025022.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 788,
"cds_start": 304,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Glu102*",
"transcript": "NM_001376065.1",
"protein_id": "NP_001362994.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 787,
"cds_start": 304,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.-66G>T",
"hgvs_p": null,
"transcript": "NM_001349753.2",
"protein_id": "NP_001336682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.-69G>T",
"hgvs_p": null,
"transcript": "ENST00000505926.5",
"protein_id": "ENSP00000425720.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 350,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.36+30743G>T",
"hgvs_p": null,
"transcript": "NM_001349750.3",
"protein_id": "NP_001336679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.36+30743G>T",
"hgvs_p": null,
"transcript": "NM_001376062.1",
"protein_id": "NP_001362991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
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"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.36+30743G>T",
"hgvs_p": null,
"transcript": "NM_001349752.3",
"protein_id": "NP_001336681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PDE8B",
"gene_hgnc_id": 8794,
"hgvs_c": "c.36+30743G>T",
"hgvs_p": null,
"transcript": "NM_001376066.1",
"protein_id": "NP_001362995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
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}
],
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}