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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: 17-44075881-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44075881&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44075881,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000269097.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Leu293Leu",
"transcript": "NM_138387.4",
"protein_id": "NP_612396.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 346,
"cds_start": 879,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": "ENST00000269097.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Leu293Leu",
"transcript": "ENST00000269097.9",
"protein_id": "ENSP00000269097.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 346,
"cds_start": 879,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": "NM_138387.4",
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*854G>A",
"hgvs_p": null,
"transcript": "ENST00000588558.6",
"protein_id": "ENSP00000467624.1",
"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": 1772,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*854G>A",
"hgvs_p": null,
"transcript": "ENST00000588558.6",
"protein_id": "ENSP00000467624.1",
"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": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Leu223Leu",
"transcript": "ENST00000696390.1",
"protein_id": "ENSP00000512600.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 276,
"cds_start": 669,
"cds_end": null,
"cds_length": 831,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "NM_001384165.1",
"protein_id": "NP_001371094.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "NM_001384166.1",
"protein_id": "NP_001371095.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "NM_001384167.1",
"protein_id": "NP_001371096.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "NM_001384168.1",
"protein_id": "NP_001371097.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "ENST00000696383.1",
"protein_id": "ENSP00000512593.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.534G>A",
"hgvs_p": "p.Leu178Leu",
"transcript": "XM_011525474.4",
"protein_id": "XP_011523776.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 231,
"cds_start": 534,
"cds_end": null,
"cds_length": 696,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 1816,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*716G>A",
"hgvs_p": null,
"transcript": "ENST00000585361.6",
"protein_id": "ENSP00000466983.1",
"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": 1637,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*900G>A",
"hgvs_p": null,
"transcript": "ENST00000593115.2",
"protein_id": "ENSP00000466821.1",
"transcript_support_level": 3,
"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": 1803,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*439G>A",
"hgvs_p": null,
"transcript": "ENST00000696384.1",
"protein_id": "ENSP00000512594.1",
"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": 1500,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*597G>A",
"hgvs_p": null,
"transcript": "ENST00000696385.1",
"protein_id": "ENSP00000512595.1",
"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": 1445,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*506G>A",
"hgvs_p": null,
"transcript": "ENST00000696387.1",
"protein_id": "ENSP00000512597.1",
"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": 1344,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*725G>A",
"hgvs_p": null,
"transcript": "ENST00000696388.1",
"protein_id": "ENSP00000512598.1",
"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": 1530,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*910G>A",
"hgvs_p": null,
"transcript": "ENST00000696389.1",
"protein_id": "ENSP00000512599.1",
"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": 1706,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*735G>A",
"hgvs_p": null,
"transcript": "ENST00000696391.1",
"protein_id": "ENSP00000512601.1",
"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": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "NM_001319945.2",
"protein_id": "NP_001306874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000590253.3",
"protein_id": "ENSP00000465111.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000696386.1",
"protein_id": "ENSP00000512596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1178,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*716G>A",
"hgvs_p": null,
"transcript": "ENST00000585361.6",
"protein_id": "ENSP00000466983.1",
"transcript_support_level": 2,
"aa_start": null,
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}
],
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"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
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"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000269097.9",
"gene_symbol": "G6PC3",
"hgnc_id": 24861,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.879G>A",
"hgvs_p": "p.Leu293Leu"
}
],
"clinvar_disease": "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,G6PC3-related disorder,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|G6PC3-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}