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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: 1-11233902-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11233902&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11233902,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_004958.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "NM_004958.4",
"protein_id": "NP_004949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361445.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004958.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000361445.9",
"protein_id": "ENSP00000354558.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361445.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2385+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934315.1",
"protein_id": "ENSP00000604374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2567,
"cds_start": null,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2352+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934312.1",
"protein_id": "ENSP00000604371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2556,
"cds_start": null,
"cds_end": null,
"cds_length": 7671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "NM_001386500.1",
"protein_id": "NP_001373429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703143.2",
"protein_id": "ENSP00000515200.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703143.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934310.1",
"protein_id": "ENSP00000604369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934314.1",
"protein_id": "ENSP00000604373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2549,
"cds_start": null,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000875524.1",
"protein_id": "ENSP00000545583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2546,
"cds_start": null,
"cds_end": null,
"cds_length": 7641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000875525.1",
"protein_id": "ENSP00000545584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2537,
"cds_start": null,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934311.1",
"protein_id": "ENSP00000604370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2520,
"cds_start": null,
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"cds_length": 7563,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934311.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 56,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2209-1374G>A",
"hgvs_p": null,
"transcript": "ENST00000703140.1",
"protein_id": "ENSP00000515197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2478,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703140.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2115+241G>A",
"hgvs_p": null,
"transcript": "ENST00000934313.1",
"protein_id": "ENSP00000604372.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2477,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934313.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 57,
"intron_rank": 13,
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"gene_symbol": "MTOR",
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"hgvs_c": "c.1083+241G>A",
"hgvs_p": null,
"transcript": "NM_001386501.1",
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"biotype": "protein_coding",
"feature": "NM_001386501.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 51,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "XM_047416721.1",
"protein_id": "XP_047272677.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2328,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047416721.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 55,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.1650+241G>A",
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"transcript": "XM_017000900.1",
"protein_id": "XP_016856389.1",
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"biotype": "protein_coding",
"feature": "XM_017000900.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.66+241G>A",
"hgvs_p": null,
"transcript": "XM_047416724.1",
"protein_id": "XP_047272680.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047416724.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null,
"transcript": "XM_011541166.3",
"protein_id": "XP_011539468.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1590,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011541166.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703118.1",
"protein_id": "ENSP00000515181.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703118.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2203+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703132.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000703132.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
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"hgvs_c": "n.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703139.2",
"protein_id": "ENSP00000515196.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703139.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2331+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703141.1",
"protein_id": "ENSP00000515198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2115+241G>A",
"hgvs_p": null,
"transcript": "ENST00000703142.1",
"protein_id": "ENSP00000515199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2452+241G>A",
"hgvs_p": null,
"transcript": "XR_007058581.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058581.1"
}
],
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"dbsnp": "rs11121704",
"frequency_reference_population": 0.64891016,
"hom_count_reference_population": 34122,
"allele_count_reference_population": 98659,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.64891,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 98659,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 34122,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.238,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004958.4",
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2331+241G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}