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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": "ENST00000395443.7",
"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": 320,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": "ENST00000395443.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 320,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": "NM_198880.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 320,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 576,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 595,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 535,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 516,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 197,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 397,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 380,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 371,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 187,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 577,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 605,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 514,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000703873.1",
"protein_id": "ENSP00000515518.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 433,
"cds_start": 138,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000437939.5",
"protein_id": "ENSP00000416133.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 102,
"cds_start": 138,
"cds_end": null,
"cds_length": 311,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "c.138_139delGCinsTT",
"hgvs_p": "p.GlnGln46*",
"transcript": "ENST00000430979.1",
"protein_id": "ENSP00000405505.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 47,
"cds_start": 138,
"cds_end": null,
"cds_length": 145,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "XM_011533863.1",
"protein_id": "XP_011532165.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
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"cdna_start": 338,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "XM_047448399.1",
"protein_id": "XP_047304355.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 776,
"cds_start": 138,
"cds_end": null,
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"cdna_start": 883,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "n.371_372delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000450685.6",
"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": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QRICH1",
"gene_hgnc_id": 24713,
"hgvs_c": "n.138_139delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000703872.1",
"protein_id": "ENSP00000515517.1",
"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": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
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"intron_rank": null,
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}
],
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"hom_count_reference_population": 0,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": null,
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"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 10,
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"criteria": [
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"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000395443.7",
"gene_symbol": "QRICH1",
"hgnc_id": 24713,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,Unknown",
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},
{
"score": 10,
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"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000703936.1",
"gene_symbol": "ENSG00000290315",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.138_139delGCinsTT",
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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
}