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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: 3-49076879-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49076879&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49076879,
"ref": "GC",
"alt": "AA",
"effect": "stop_gained",
"transcript": "NM_017730.4",
"consequences": [
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_198880.3",
"protein_id": "NP_942581.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395443.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198880.3"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000395443.7",
"protein_id": "ENSP00000378830.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198880.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395443.7"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290315",
"gene_hgnc_id": null,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000703936.1",
"protein_id": "ENSP00000515567.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1194,
"cds_start": 138,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703936.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320580.2",
"protein_id": "NP_001307509.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320580.2"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320581.2",
"protein_id": "NP_001307510.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320581.2"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320582.2",
"protein_id": "NP_001307511.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320582.2"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320583.2",
"protein_id": "NP_001307512.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320583.2"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320584.1",
"protein_id": "NP_001307513.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320584.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_001320585.1",
"protein_id": "NP_001307514.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320585.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "NM_017730.4",
"protein_id": "NP_060200.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017730.4"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000357496.6",
"protein_id": "ENSP00000350094.2",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357496.6"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000411682.2",
"protein_id": "ENSP00000412870.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411682.2"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000424300.5",
"protein_id": "ENSP00000412890.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424300.5"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000703871.1",
"protein_id": "ENSP00000515516.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703871.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000703942.1",
"protein_id": "ENSP00000515573.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703942.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887075.1",
"protein_id": "ENSP00000557134.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887075.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887076.1",
"protein_id": "ENSP00000557135.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887076.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887078.1",
"protein_id": "ENSP00000557137.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887078.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887079.1",
"protein_id": "ENSP00000557138.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887079.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887080.1",
"protein_id": "ENSP00000557139.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887080.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887081.1",
"protein_id": "ENSP00000557140.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887081.1"
},
{
"aa_ref": "QQ",
"aa_alt": "H*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000887083.1",
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
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"splice_score_selected": null,
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{
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"PP5_Moderate"
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"verdict": "Pathogenic",
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"effects": [
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{
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"verdict": "Pathogenic",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Ververi-Brady syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Ververi-Brady syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}