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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: 14-64113343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64113343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64113343,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000555002.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "NM_182914.3",
"protein_id": "NP_878918.2",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6907,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "ENST00000555002.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "ENST00000555002.6",
"protein_id": "ENSP00000450831.2",
"transcript_support_level": 1,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6907,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21822,
"mane_select": "NM_182914.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "ENST00000344113.8",
"protein_id": "ENSP00000341781.4",
"transcript_support_level": 1,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6885,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 12824,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "n.2145C>T",
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "ENST00000358025.7",
"protein_id": "ENSP00000350719.3",
"transcript_support_level": 5,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6907,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20724,
"cdna_start": 12824,
"cdna_end": null,
"cdna_length": 21842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "NM_015180.6",
"protein_id": "NP_055995.4",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6885,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20658,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 115,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12657C>T",
"hgvs_p": "p.Gly4219Gly",
"transcript": "ENST00000554584.5",
"protein_id": "ENSP00000452570.1",
"transcript_support_level": 5,
"aa_start": 4219,
"aa_end": null,
"aa_length": 6818,
"cds_start": 12657,
"cds_end": null,
"cds_length": 20457,
"cdna_start": 12708,
"cdna_end": null,
"cdna_length": 20508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.15C>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000673797.1",
"protein_id": "ENSP00000501238.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 638,
"cds_start": 15,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.15C>T",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000673869.1",
"protein_id": "ENSP00000501077.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 251,
"cds_start": 15,
"cds_end": null,
"cds_length": 756,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536574.2",
"protein_id": "XP_011534876.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536575.3",
"protein_id": "XP_011534877.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12889,
"cdna_end": null,
"cdna_length": 22011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536576.3",
"protein_id": "XP_011534878.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 13056,
"cdna_end": null,
"cdna_length": 22178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536577.3",
"protein_id": "XP_011534879.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12740,
"cdna_end": null,
"cdna_length": 21862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_017021101.2",
"protein_id": "XP_016876590.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 22952,
"cdna_end": null,
"cdna_length": 32074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_047431149.1",
"protein_id": "XP_047287105.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12807,
"cdna_end": null,
"cdna_length": 21929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_047431150.1",
"protein_id": "XP_047287106.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12695,
"cdna_end": null,
"cdna_length": 21817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_047431151.1",
"protein_id": "XP_047287107.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20811,
"cdna_start": 12747,
"cdna_end": null,
"cdna_length": 21869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 67,
"exon_rank_end": null,
"exon_count": 117,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_047431152.1",
"protein_id": "XP_047287108.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6936,
"cds_start": 12612,
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"cdna_start": 13050,
"cdna_end": null,
"cdna_length": 22172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536578.2",
"protein_id": "XP_011534880.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6935,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20808,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_005267454.2",
"protein_id": "XP_005267511.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6922,
"cds_start": 12612,
"cds_end": null,
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"cdna_start": 12803,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_011536579.2",
"protein_id": "XP_011534881.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6922,
"cds_start": 12612,
"cds_end": null,
"cds_length": 20769,
"cdna_start": 12803,
"cdna_end": null,
"cdna_length": 21883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 66,
"exon_rank_end": null,
"exon_count": 116,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE2",
"gene_hgnc_id": 17084,
"hgvs_c": "c.12612C>T",
"hgvs_p": "p.Gly4204Gly",
"transcript": "XM_005267456.2",
"protein_id": "XP_005267513.1",
"transcript_support_level": null,
"aa_start": 4204,
"aa_end": null,
"aa_length": 6921,
"cds_start": 12612,
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"phenotype_combined": "not specified|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|not provided",
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}
],
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}