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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: 5-153650400-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=153650400&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 153650400,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000285900.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "NM_000827.4",
"protein_id": "NP_000818.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 906,
"cds_start": 531,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "ENST00000285900.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "ENST00000285900.10",
"protein_id": "ENSP00000285900.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 906,
"cds_start": 531,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "NM_000827.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "ENST00000340592.10",
"protein_id": "ENSP00000339343.5",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 906,
"cds_start": 531,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.672T>C",
"hgvs_p": null,
"transcript": "ENST00000481559.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "ENST00000706733.1",
"protein_id": "ENSP00000516520.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 947,
"cds_start": 531,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Ile187Ile",
"transcript": "NM_001258021.2",
"protein_id": "NP_001244950.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 916,
"cds_start": 561,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Ile187Ile",
"transcript": "NM_001258022.2",
"protein_id": "NP_001244951.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 916,
"cds_start": 561,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Ile187Ile",
"transcript": "ENST00000448073.8",
"protein_id": "ENSP00000415569.2",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 916,
"cds_start": 561,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Ile187Ile",
"transcript": "ENST00000518783.1",
"protein_id": "ENSP00000428994.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 916,
"cds_start": 561,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.558T>C",
"hgvs_p": "p.Ile186Ile",
"transcript": "NM_001364166.2",
"protein_id": "NP_001351095.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 915,
"cds_start": 558,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.558T>C",
"hgvs_p": "p.Ile186Ile",
"transcript": "ENST00000706734.1",
"protein_id": "ENSP00000516521.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 915,
"cds_start": 558,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "NM_001114183.2",
"protein_id": "NP_001107655.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 906,
"cds_start": 531,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile",
"transcript": "NM_001364165.2",
"protein_id": "NP_001351094.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 850,
"cds_start": 531,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Ile108Ile",
"transcript": "NM_001258023.1",
"protein_id": "NP_001244952.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 837,
"cds_start": 324,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Ile108Ile",
"transcript": "NM_001364167.2",
"protein_id": "NP_001351096.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 837,
"cds_start": 324,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Ile108Ile",
"transcript": "ENST00000521843.6",
"protein_id": "ENSP00000427864.2",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 837,
"cds_start": 324,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Ile97Ile",
"transcript": "NM_001258019.2",
"protein_id": "NP_001244948.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 826,
"cds_start": 291,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Ile97Ile",
"transcript": "ENST00000518142.5",
"protein_id": "ENSP00000427920.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 826,
"cds_start": 291,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.246T>C",
"hgvs_p": "p.Ile82Ile",
"transcript": "NM_001258020.2",
"protein_id": "NP_001244949.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 811,
"cds_start": 246,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.471T>C",
"hgvs_p": "p.Ile157Ile",
"transcript": "XM_047417128.1",
"protein_id": "XP_047273084.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 886,
"cds_start": 471,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.561T>C",
"hgvs_p": "p.Ile187Ile",
"transcript": "XM_017009392.2",
"protein_id": "XP_016864881.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 846,
"cds_start": 561,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.479T>C",
"hgvs_p": null,
"transcript": "ENST00000518862.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.399T>C",
"hgvs_p": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"transcript": "NR_047578.2",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 17,
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"gene_symbol": "GRIA1",
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"hgvs_c": "n.750T>C",
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"transcript": "NR_157093.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "GRIA1",
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"hgvs_c": "c.*64T>C",
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"transcript": "ENST00000706767.1",
"protein_id": "ENSP00000516540.1",
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"aa_length": 108,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 548,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"dbsnp": "rs707176",
"frequency_reference_population": 0.3021756,
"hom_count_reference_population": 79191,
"allele_count_reference_population": 487570,
"gnomad_exomes_af": 0.306584,
"gnomad_genomes_af": 0.259805,
"gnomad_exomes_ac": 448063,
"gnomad_genomes_ac": 39507,
"gnomad_exomes_homalt": 73229,
"gnomad_genomes_homalt": 5962,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.861,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000285900.10",
"gene_symbol": "GRIA1",
"hgnc_id": 4571,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.531T>C",
"hgvs_p": "p.Ile177Ile"
}
],
"clinvar_disease": "GRIA1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "GRIA1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}