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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: 14-88602001-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88602001&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88602001,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000251038.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "NM_024824.5",
"protein_id": "NP_079100.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 736,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 18153,
"mane_select": "ENST00000251038.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "ENST00000251038.10",
"protein_id": "ENSP00000251038.5",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 736,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 18153,
"mane_select": "NM_024824.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Val393Ile",
"transcript": "ENST00000556000.5",
"protein_id": "ENSP00000451054.1",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 650,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2092,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1280-5242G>A",
"hgvs_p": null,
"transcript": "ENST00000302216.12",
"protein_id": "ENSP00000307025.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2560,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1252+5193G>A",
"hgvs_p": null,
"transcript": "ENST00000336693.8",
"protein_id": "ENSP00000338002.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2007,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.460+5193G>A",
"hgvs_p": null,
"transcript": "ENST00000318308.10",
"protein_id": "ENSP00000327176.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "NM_001160103.2",
"protein_id": "NP_001153575.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 735,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 18150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "NM_001326310.2",
"protein_id": "NP_001313239.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 731,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 18138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "NM_001160104.2",
"protein_id": "NP_001153576.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 730,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 18135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile",
"transcript": "ENST00000555755.5",
"protein_id": "ENSP00000452475.1",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 730,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "NM_001326307.2",
"protein_id": "NP_001313236.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 711,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 18078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "ENST00000393514.9",
"protein_id": "ENSP00000377150.5",
"transcript_support_level": 5,
"aa_start": 453,
"aa_end": null,
"aa_length": 711,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "NM_001326296.2",
"protein_id": "NP_001313225.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 710,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 18075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "NM_001326312.2",
"protein_id": "NP_001313241.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 706,
"cds_start": 1357,
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"cdna_start": 1454,
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"cdna_length": 18063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Ile",
"transcript": "NM_001326299.2",
"protein_id": "NP_001313228.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 705,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 18060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Ile",
"transcript": "NM_001326297.2",
"protein_id": "NP_001313226.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 702,
"cds_start": 1330,
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"cdna_start": 1710,
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"cdna_length": 18334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Ile",
"transcript": "NM_001326315.2",
"protein_id": "NP_001313244.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 701,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 18331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Ile",
"transcript": "NM_001326316.2",
"protein_id": "NP_001313245.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 701,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 18126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Val419Ile",
"transcript": "NM_001326301.2",
"protein_id": "NP_001313230.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 677,
"cds_start": 1255,
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"cdna_start": 1635,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Ile",
"transcript": "NM_001326300.2",
"protein_id": "NP_001313229.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 581,
"cds_start": 967,
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"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 18038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Val323Ile",
"transcript": "NM_001326302.2",
"protein_id": "NP_001313231.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 580,
"cds_start": 967,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 18035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
"gene_hgnc_id": 20509,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "NM_001326305.2",
"protein_id": "NP_001313234.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 556,
"cds_start": 892,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 17963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H14",
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"gnomad_genomes_af": 0.000288809,
"gnomad_exomes_ac": 461,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003507375717163086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0548,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.124,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000251038.10",
"gene_symbol": "ZC3H14",
"hgnc_id": 20509,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Val478Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}