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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: 6-152301877-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152301877&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152301877,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367255.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17533G>A",
"hgvs_p": "p.Val5845Met",
"transcript": "NM_182961.4",
"protein_id": "NP_892006.3",
"transcript_support_level": null,
"aa_start": 5845,
"aa_end": null,
"aa_length": 8797,
"cds_start": 17533,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 18098,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "ENST00000367255.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17533G>A",
"hgvs_p": "p.Val5845Met",
"transcript": "ENST00000367255.10",
"protein_id": "ENSP00000356224.5",
"transcript_support_level": 1,
"aa_start": 5845,
"aa_end": null,
"aa_length": 8797,
"cds_start": 17533,
"cds_end": null,
"cds_length": 26394,
"cdna_start": 18098,
"cdna_end": null,
"cdna_length": 27708,
"mane_select": "NM_182961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17320G>A",
"hgvs_p": "p.Val5774Met",
"transcript": "ENST00000423061.6",
"protein_id": "ENSP00000396024.1",
"transcript_support_level": 1,
"aa_start": 5774,
"aa_end": null,
"aa_length": 8749,
"cds_start": 17320,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 17796,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.1225G>A",
"hgvs_p": null,
"transcript": "ENST00000367256.9",
"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": 10742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.1117G>A",
"hgvs_p": null,
"transcript": "ENST00000409694.6",
"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": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "ENST00000489156.1",
"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": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 146,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17320G>A",
"hgvs_p": "p.Val5774Met",
"transcript": "NM_033071.5",
"protein_id": "NP_149062.2",
"transcript_support_level": null,
"aa_start": 5774,
"aa_end": null,
"aa_length": 8749,
"cds_start": 17320,
"cds_end": null,
"cds_length": 26250,
"cdna_start": 17796,
"cdna_end": null,
"cdna_length": 27475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Met",
"transcript": "ENST00000540663.5",
"protein_id": "ENSP00000437411.1",
"transcript_support_level": 4,
"aa_start": 67,
"aa_end": null,
"aa_length": 241,
"cds_start": 199,
"cds_end": null,
"cds_length": 728,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Met",
"transcript": "ENST00000537033.1",
"protein_id": "ENSP00000443879.1",
"transcript_support_level": 4,
"aa_start": 67,
"aa_end": null,
"aa_length": 194,
"cds_start": 199,
"cds_end": null,
"cds_length": 586,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_006715407.2",
"protein_id": "XP_006715470.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8846,
"cds_start": 17554,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 18030,
"cdna_end": null,
"cdna_length": 27766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 149,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_017010608.2",
"protein_id": "XP_016866097.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8846,
"cds_start": 17554,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 18119,
"cdna_end": null,
"cdna_length": 27855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_017010609.2",
"protein_id": "XP_016866098.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8846,
"cds_start": 17554,
"cds_end": null,
"cds_length": 26541,
"cdna_start": 17951,
"cdna_end": null,
"cdna_length": 27687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_011535641.3",
"protein_id": "XP_011533943.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8845,
"cds_start": 17554,
"cds_end": null,
"cds_length": 26538,
"cdna_start": 18030,
"cdna_end": null,
"cdna_length": 27763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_006715408.3",
"protein_id": "XP_006715471.1",
"transcript_support_level": null,
"aa_start": 5852,
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"cdna_start": 18030,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_011535642.3",
"protein_id": "XP_011533944.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8841,
"cds_start": 17554,
"cds_end": null,
"cds_length": 26526,
"cdna_start": 18030,
"cdna_end": null,
"cdna_length": 27751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17533G>A",
"hgvs_p": "p.Val5845Met",
"transcript": "XM_006715409.2",
"protein_id": "XP_006715472.1",
"transcript_support_level": null,
"aa_start": 5845,
"aa_end": null,
"aa_length": 8839,
"cds_start": 17533,
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"cdna_start": 18009,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17533G>A",
"hgvs_p": "p.Val5845Met",
"transcript": "XM_017010610.2",
"protein_id": "XP_016866099.1",
"transcript_support_level": null,
"aa_start": 5845,
"aa_end": null,
"aa_length": 8839,
"cds_start": 17533,
"cds_end": null,
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"cdna_start": 17930,
"cdna_end": null,
"cdna_length": 27666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17533G>A",
"hgvs_p": "p.Val5845Met",
"transcript": "XM_047418501.1",
"protein_id": "XP_047274457.1",
"transcript_support_level": null,
"aa_start": 5845,
"aa_end": null,
"aa_length": 8839,
"cds_start": 17533,
"cds_end": null,
"cds_length": 26520,
"cdna_start": 18098,
"cdna_end": null,
"cdna_length": 27834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17527G>A",
"hgvs_p": "p.Val5843Met",
"transcript": "XM_017010611.3",
"protein_id": "XP_016866100.1",
"transcript_support_level": null,
"aa_start": 5843,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_006715410.3",
"protein_id": "XP_006715473.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8832,
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"cdna_start": 18030,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17554G>A",
"hgvs_p": "p.Val5852Met",
"transcript": "XM_047418502.1",
"protein_id": "XP_047274458.1",
"transcript_support_level": null,
"aa_start": 5852,
"aa_end": null,
"aa_length": 8831,
"cds_start": 17554,
"cds_end": null,
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"cdna_start": 18030,
"cdna_end": null,
"cdna_length": 27721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 91,
"exon_rank_end": null,
"exon_count": 147,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
"hgvs_c": "c.17503G>A",
"hgvs_p": "p.Val5835Met",
"transcript": "XM_006715411.2",
"protein_id": "XP_006715474.1",
"transcript_support_level": null,
"aa_start": 5835,
"aa_end": null,
"aa_length": 8829,
"cds_start": 17503,
"cds_end": null,
"cds_length": 26490,
"cdna_start": 17979,
"cdna_end": null,
"cdna_length": 27715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 148,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE1",
"gene_hgnc_id": 17089,
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"phenotype_combined": "not provided|SYNE1-related disorder|Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
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