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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: 1-147264552-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=147264552&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 147264552,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000369258.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"transcript": "NM_004284.6",
"protein_id": "NP_004275.4",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 897,
"cds_start": 707,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "ENST00000369258.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"transcript": "ENST00000369258.8",
"protein_id": "ENSP00000358262.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 897,
"cds_start": 707,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": "NM_004284.6",
"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": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.707G>A",
"hgvs_p": null,
"transcript": "ENST00000467213.5",
"protein_id": "ENSP00000477985.1",
"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": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.128-1380G>A",
"hgvs_p": null,
"transcript": "ENST00000369259.4",
"protein_id": "ENSP00000358263.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LINC00624",
"gene_hgnc_id": 44254,
"hgvs_c": "n.997-3576C>T",
"hgvs_p": null,
"transcript": "ENST00000619867.4",
"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": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "NM_001348451.2",
"protein_id": "NP_001335380.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 825,
"cds_start": 491,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "NM_001348452.2",
"protein_id": "NP_001335381.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 825,
"cds_start": 491,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "ENST00000431239.6",
"protein_id": "ENSP00000389031.3",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 825,
"cds_start": 491,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136His",
"transcript": "NM_001256336.3",
"protein_id": "NP_001243265.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 797,
"cds_start": 407,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"transcript": "ENST00000650714.1",
"protein_id": "ENSP00000499169.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 792,
"cds_start": 707,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123His",
"transcript": "NM_001348453.2",
"protein_id": "NP_001335382.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 784,
"cds_start": 368,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123His",
"transcript": "NM_024568.4",
"protein_id": "NP_078844.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 784,
"cds_start": 368,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "NM_001348454.2",
"protein_id": "NP_001335383.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 745,
"cds_start": 251,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000361293.10",
"protein_id": "ENSP00000355100.6",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 745,
"cds_start": 251,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001348455.2",
"protein_id": "NP_001335384.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 734,
"cds_start": 218,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"transcript": "XM_047435001.1",
"protein_id": "XP_047290957.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 540,
"cds_start": 707,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1708,
"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": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.*430G>A",
"hgvs_p": null,
"transcript": "ENST00000622533.4",
"protein_id": "ENSP00000480553.1",
"transcript_support_level": 5,
"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": 2937,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.707G>A",
"hgvs_p": null,
"transcript": "ENST00000650721.1",
"protein_id": "ENSP00000498234.1",
"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": 2862,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237188",
"gene_hgnc_id": null,
"hgvs_c": "n.940G>A",
"hgvs_p": null,
"transcript": "ENST00000650785.1",
"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": 2981,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.*327G>A",
"hgvs_p": null,
"transcript": "ENST00000650828.1",
"protein_id": "ENSP00000499019.1",
"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": 2717,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.707G>A",
"hgvs_p": null,
"transcript": "ENST00000651070.1",
"protein_id": "ENSP00000498564.1",
"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": 3189,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000237188",
"gene_hgnc_id": null,
"hgvs_c": "n.1173G>A",
"hgvs_p": null,
"transcript": "ENST00000651151.1",
"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": 2506,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1L",
"gene_hgnc_id": 1916,
"hgvs_c": "n.491G>A",
"hgvs_p": null,
"transcript": "ENST00000651206.1",
"protein_id": "ENSP00000498494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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{
"score": -8,
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"BS2"
],
"verdict": "Benign",
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"inheritance_mode": "AD",
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{
"score": -2,
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"verdict": "Likely_benign",
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"gene_symbol": "ENSG00000237188",
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"effects": [
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"inheritance_mode": "",
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{
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],
"clinvar_disease": "Congenital anomaly of kidney and urinary tract,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital anomaly of kidney and urinary tract|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}