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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: 1-28605412-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28605412&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 28605412,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001410769.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "NM_005644.4",
"protein_id": "NP_005635.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373824.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005644.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000373824.9",
"protein_id": "ENSP00000362930.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005644.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373824.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000263974.4",
"protein_id": "ENSP00000263974.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263974.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000688108.1",
"protein_id": "ENSP00000510282.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 228,
"cds_start": 410,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688108.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.566G>T",
"hgvs_p": "p.Arg189Leu",
"transcript": "NM_001410769.1",
"protein_id": "NP_001397698.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 213,
"cds_start": 566,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410769.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.566G>T",
"hgvs_p": "p.Arg189Leu",
"transcript": "ENST00000495422.2",
"protein_id": "ENSP00000508345.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 213,
"cds_start": 566,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495422.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000471683.6",
"protein_id": "ENSP00000508634.1",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 194,
"cds_start": 410,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471683.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000693642.1",
"protein_id": "ENSP00000509910.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 189,
"cds_start": 410,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693642.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.332G>T",
"hgvs_p": "p.Arg111Leu",
"transcript": "ENST00000691563.1",
"protein_id": "ENSP00000508797.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 168,
"cds_start": 332,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691563.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000690492.1",
"protein_id": "ENSP00000510456.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 162,
"cds_start": 410,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690492.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "NM_001135218.2",
"protein_id": "NP_001128690.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135218.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000685312.1",
"protein_id": "ENSP00000509153.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685312.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000689843.1",
"protein_id": "ENSP00000509370.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689843.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857941.1",
"protein_id": "ENSP00000528000.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857941.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857942.1",
"protein_id": "ENSP00000528001.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857942.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857943.1",
"protein_id": "ENSP00000528002.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857943.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857944.1",
"protein_id": "ENSP00000528003.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857944.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857945.1",
"protein_id": "ENSP00000528004.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857945.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857946.1",
"protein_id": "ENSP00000528005.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857946.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857947.1",
"protein_id": "ENSP00000528006.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857947.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000857948.1",
"protein_id": "ENSP00000528007.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857948.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF12",
"gene_hgnc_id": 11545,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "ENST00000938953.1",
"protein_id": "ENSP00000609012.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 161,
"cds_start": 410,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938953.1"
},
{
"aa_ref": "R",
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}
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}