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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: 14-64087736-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64087736&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64087736,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182914.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "NM_182914.3",
"protein_id": "NP_878918.2",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6907,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 11741,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "ENST00000555002.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "ENST00000555002.6",
"protein_id": "ENSP00000450831.2",
"transcript_support_level": 1,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6907,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 11741,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "NM_182914.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "ENST00000344113.8",
"protein_id": "ENSP00000341781.4",
"transcript_support_level": 1,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6885,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 11762,
"cdna_end": null,
"cdna_length": 21777,
"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": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.1083C>A",
"hgvs_p": null,
"transcript": "ENST00000394768.6",
"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": 11095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "ENST00000358025.7",
"protein_id": "ENSP00000350719.3",
"transcript_support_level": 5,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6907,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 11762,
"cdna_end": null,
"cdna_length": 21842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "NM_015180.6",
"protein_id": "NP_055995.4",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6885,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 11741,
"cdna_end": null,
"cdna_length": 21756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11649C>A",
"hgvs_p": "p.Asp3883Glu",
"transcript": "ENST00000554584.5",
"protein_id": "ENSP00000452570.1",
"transcript_support_level": 5,
"aa_start": 3883,
"aa_end": null,
"aa_length": 6818,
"cds_start": 11649,
"cds_end": null,
"cds_length": 20457,
"cdna_start": 11700,
"cdna_end": null,
"cdna_length": 20508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536574.2",
"protein_id": "XP_011534876.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 11741,
"cdna_end": null,
"cdna_length": 21925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536575.3",
"protein_id": "XP_011534877.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 11827,
"cdna_end": null,
"cdna_length": 22011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536576.3",
"protein_id": "XP_011534878.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 11994,
"cdna_end": null,
"cdna_length": 22178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536577.3",
"protein_id": "XP_011534879.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 11678,
"cdna_end": null,
"cdna_length": 21862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_017021101.2",
"protein_id": "XP_016876590.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 21890,
"cdna_end": null,
"cdna_length": 32074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_047431149.1",
"protein_id": "XP_047287105.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
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"cdna_start": 11745,
"cdna_end": null,
"cdna_length": 21929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_047431150.1",
"protein_id": "XP_047287106.1",
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"aa_start": 3850,
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"cdna_start": 11633,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_047431151.1",
"protein_id": "XP_047287107.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6936,
"cds_start": 11550,
"cds_end": null,
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"cdna_start": 11685,
"cdna_end": null,
"cdna_length": 21869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_047431152.1",
"protein_id": "XP_047287108.1",
"transcript_support_level": null,
"aa_start": 3850,
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"cdna_start": 11988,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536578.2",
"protein_id": "XP_011534880.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6935,
"cds_start": 11550,
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"cds_length": 20808,
"cdna_start": 11741,
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"cdna_length": 21922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_005267454.2",
"protein_id": "XP_005267511.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6922,
"cds_start": 11550,
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"cdna_start": 11741,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536579.2",
"protein_id": "XP_011534881.1",
"transcript_support_level": null,
"aa_start": 3850,
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"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_005267456.2",
"protein_id": "XP_005267513.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6921,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536580.3",
"protein_id": "XP_011534882.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6921,
"cds_start": 11550,
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"cdna_start": 11741,
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"cdna_length": 21880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.11550C>A",
"hgvs_p": "p.Asp3850Glu",
"transcript": "XM_011536581.2",
"protein_id": "XP_011534883.1",
"transcript_support_level": null,
"aa_start": 3850,
"aa_end": null,
"aa_length": 6913,
"cds_start": 11550,
"cds_end": null,
"cds_length": 20742,
"cdna_start": 11741,
"cdna_end": null,
"cdna_length": 21856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
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}
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}