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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: 1-170544832-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=170544832&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 170544832,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367763.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Tyr217His",
"transcript": "NM_152281.3",
"protein_id": "NP_689494.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 369,
"cds_start": 649,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": "ENST00000367763.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Tyr217His",
"transcript": "ENST00000367763.8",
"protein_id": "ENSP00000356737.4",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 369,
"cds_start": 649,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": "NM_152281.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Tyr217His",
"transcript": "ENST00000367762.2",
"protein_id": "ENSP00000356736.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 221,
"cds_start": 649,
"cds_end": null,
"cds_length": 666,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1699,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.193T>C",
"hgvs_p": null,
"transcript": "ENST00000475113.1",
"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": 468,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*643T>C",
"hgvs_p": null,
"transcript": "ENST00000498166.6",
"protein_id": "ENSP00000473336.2",
"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": 2467,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.740T>C",
"hgvs_p": null,
"transcript": "ENST00000498600.2",
"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": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*643T>C",
"hgvs_p": null,
"transcript": "ENST00000498166.6",
"protein_id": "ENSP00000473336.2",
"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": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Tyr200His",
"transcript": "NM_001410894.1",
"protein_id": "NP_001397823.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 352,
"cds_start": 598,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Tyr200His",
"transcript": "ENST00000688688.1",
"protein_id": "ENSP00000510426.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 352,
"cds_start": 598,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Tyr217His",
"transcript": "NM_001146039.2",
"protein_id": "NP_001139511.2",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 221,
"cds_start": 649,
"cds_end": null,
"cds_length": 666,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Tyr62His",
"transcript": "NM_001320252.2",
"protein_id": "NP_001307181.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 214,
"cds_start": 184,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2840,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*513T>C",
"hgvs_p": null,
"transcript": "ENST00000685515.1",
"protein_id": "ENSP00000509073.1",
"transcript_support_level": null,
"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": 2579,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.764T>C",
"hgvs_p": null,
"transcript": "ENST00000686021.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2169,
"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": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*167T>C",
"hgvs_p": null,
"transcript": "ENST00000686870.1",
"protein_id": "ENSP00000510121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 944,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.3665T>C",
"hgvs_p": null,
"transcript": "ENST00000687370.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5085,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*647T>C",
"hgvs_p": null,
"transcript": "ENST00000687880.1",
"protein_id": "ENSP00000508486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*517T>C",
"hgvs_p": null,
"transcript": "ENST00000688499.1",
"protein_id": "ENSP00000509581.1",
"transcript_support_level": null,
"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": 2382,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.*647T>C",
"hgvs_p": null,
"transcript": "ENST00000689173.1",
"protein_id": "ENSP00000509341.1",
"transcript_support_level": null,
"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": 2814,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.813T>C",
"hgvs_p": null,
"transcript": "ENST00000690124.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.842T>C",
"hgvs_p": null,
"transcript": "ENST00000690898.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1398,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.1388T>C",
"hgvs_p": null,
"transcript": "ENST00000691051.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2793,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.420T>C",
"hgvs_p": null,
"transcript": "ENST00000691199.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1825,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORAB",
"gene_hgnc_id": 25676,
"hgvs_c": "n.368T>C",
"hgvs_p": null,
"transcript": "ENST00000691235.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1773,
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Geroderma osteodysplastica|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}