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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: 4-157317678-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=157317678&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 157317678,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264426.14",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "NM_001083619.3",
"protein_id": "NP_001077088.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 883,
"cds_start": 687,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": "ENST00000264426.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000264426.14",
"protein_id": "ENSP00000264426.9",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 883,
"cds_start": 687,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": "NM_001083619.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000296526.12",
"protein_id": "ENSP00000296526.7",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 883,
"cds_start": 687,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000393815.6",
"protein_id": "ENSP00000377403.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000645636.1",
"protein_id": "ENSP00000495569.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 901,
"cds_start": 687,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000703760.1",
"protein_id": "ENSP00000515468.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 892,
"cds_start": 687,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "NM_000826.6",
"protein_id": "NP_000817.5",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 883,
"cds_start": 687,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000703752.1",
"protein_id": "ENSP00000515461.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 854,
"cds_start": 546,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "NM_001083620.3",
"protein_id": "NP_001077089.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "NM_001379000.3",
"protein_id": "NP_001365929.3",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "NM_001379001.3",
"protein_id": "NP_001365930.3",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000507898.5",
"protein_id": "ENSP00000426845.1",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000703717.1",
"protein_id": "ENSP00000515446.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 836,
"cds_start": 546,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 829,
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"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000703765.1",
"protein_id": "ENSP00000515472.1",
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"cdna_start": 902,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.447T>A",
"hgvs_p": "p.His149Gln",
"transcript": "ENST00000703718.1",
"protein_id": "ENSP00000515447.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 803,
"cds_start": 447,
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"cds_length": 2412,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.306T>A",
"hgvs_p": "p.His102Gln",
"transcript": "ENST00000703767.1",
"protein_id": "ENSP00000515474.1",
"transcript_support_level": null,
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"cdna_start": 1502,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000703763.1",
"protein_id": "ENSP00000515470.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 476,
"cds_start": 687,
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"cdna_start": 916,
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"cdna_length": 1977,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "ENST00000703764.1",
"protein_id": "ENSP00000515471.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 403,
"cds_start": 546,
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"cdna_start": 752,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.687T>A",
"hgvs_p": "p.His229Gln",
"transcript": "ENST00000703757.1",
"protein_id": "ENSP00000515466.1",
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},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.His182Gln",
"transcript": "XM_047450131.1",
"protein_id": "XP_047306087.1",
"transcript_support_level": null,
"aa_start": 182,
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"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "n.546T>A",
"hgvs_p": null,
"transcript": "ENST00000323661.10",
"protein_id": "ENSP00000318144.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2798,
"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": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "n.1006T>A",
"hgvs_p": null,
"transcript": "ENST00000471736.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5377,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIA2",
"gene_hgnc_id": 4572,
"hgvs_c": "n.548T>A",
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}