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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: 14-33797565-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=33797565&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 33797565,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001164749.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1410C>A",
"hgvs_p": "p.Asp470Glu",
"transcript": "NM_001164749.2",
"protein_id": "NP_001158221.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 933,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356141.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164749.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1410C>A",
"hgvs_p": "p.Asp470Glu",
"transcript": "ENST00000356141.9",
"protein_id": "ENSP00000348460.4",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 933,
"cds_start": 1410,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164749.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356141.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1371C>A",
"hgvs_p": "p.Asp457Glu",
"transcript": "ENST00000357798.9",
"protein_id": "ENSP00000350446.5",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 920,
"cds_start": 1371,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357798.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1320C>A",
"hgvs_p": "p.Asp440Glu",
"transcript": "ENST00000548645.5",
"protein_id": "ENSP00000448916.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 903,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548645.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Asp438Glu",
"transcript": "ENST00000346562.6",
"protein_id": "ENSP00000319610.5",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 901,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346562.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1425C>A",
"hgvs_p": "p.Asp475Glu",
"transcript": "ENST00000551492.5",
"protein_id": "ENSP00000450392.1",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 938,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551492.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1428C>A",
"hgvs_p": "p.Asp476Glu",
"transcript": "ENST00000551634.6",
"protein_id": "ENSP00000448373.2",
"transcript_support_level": 5,
"aa_start": 476,
"aa_end": null,
"aa_length": 934,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551634.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1371C>A",
"hgvs_p": "p.Asp457Glu",
"transcript": "NM_173159.3",
"protein_id": "NP_775182.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 920,
"cds_start": 1371,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173159.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1365C>A",
"hgvs_p": "p.Asp455Glu",
"transcript": "NM_001394988.1",
"protein_id": "NP_001381917.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 918,
"cds_start": 1365,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394988.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1320C>A",
"hgvs_p": "p.Asp440Glu",
"transcript": "NM_001165893.2",
"protein_id": "NP_001159365.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 903,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165893.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Asp438Glu",
"transcript": "NM_022123.3",
"protein_id": "NP_071406.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 901,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022123.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1320C>A",
"hgvs_p": "p.Asp440Glu",
"transcript": "NM_001394989.1",
"protein_id": "NP_001381918.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 900,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394989.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1569C>A",
"hgvs_p": "p.Asp523Glu",
"transcript": "XM_017021582.2",
"protein_id": "XP_016877071.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 986,
"cds_start": 1569,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021582.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1563C>A",
"hgvs_p": "p.Asp521Glu",
"transcript": "XM_047431678.1",
"protein_id": "XP_047287634.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 984,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431678.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1569C>A",
"hgvs_p": "p.Asp523Glu",
"transcript": "XM_017021583.2",
"protein_id": "XP_016877072.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 983,
"cds_start": 1569,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021583.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1518C>A",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_005267991.4",
"protein_id": "XP_005268048.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 969,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267991.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1512C>A",
"hgvs_p": "p.Asp504Glu",
"transcript": "XM_005267992.4",
"protein_id": "XP_005268049.2",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 967,
"cds_start": 1512,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267992.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1518C>A",
"hgvs_p": "p.Asp506Glu",
"transcript": "XM_011537069.3",
"protein_id": "XP_011535371.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 966,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537069.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1479C>A",
"hgvs_p": "p.Asp493Glu",
"transcript": "XM_017021584.2",
"protein_id": "XP_016877073.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 956,
"cds_start": 1479,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021584.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1461C>A",
"hgvs_p": "p.Asp487Glu",
"transcript": "XM_011537067.3",
"protein_id": "XP_011535369.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 950,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537067.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1428C>A",
"hgvs_p": "p.Asp476Glu",
"transcript": "XM_017021585.2",
"protein_id": "XP_016877074.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 939,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021585.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPAS3",
"gene_hgnc_id": 19311,
"hgvs_c": "c.1428C>A",
"hgvs_p": "p.Asp476Glu",
"transcript": "XM_011537071.3",
"protein_id": "XP_011535373.2",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 936,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
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{
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},
{
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],
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"gene_symbol": "NPAS3",
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},
{
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"strand": true,
"consequences": [
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],
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{
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],
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{
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],
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{
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"strand": true,
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"3_prime_UTR_variant"
],
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"gene_symbol": "NPAS3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681323.1"
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],
"gene_symbol": "NPAS3",
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"dbsnp": "rs144841798",
"frequency_reference_population": 0.00053284626,
"hom_count_reference_population": 1,
"allele_count_reference_population": 860,
"gnomad_exomes_af": 0.000554807,
"gnomad_genomes_af": 0.000321936,
"gnomad_exomes_ac": 811,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0379638671875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1234,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.089,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001164749.2",
"gene_symbol": "NPAS3",
"hgnc_id": 19311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1410C>A",
"hgvs_p": "p.Asp470Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}