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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: 11-76516138-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76516138&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76516138,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000695367.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "NM_001300942.2",
"protein_id": "NP_001287871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": "ENST00000695367.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "ENST00000695367.1",
"protein_id": "ENSP00000511840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7049,
"mane_select": "NM_001300942.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "ENST00000524767.5",
"protein_id": "ENSP00000433205.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "ENST00000525038.5",
"protein_id": "ENSP00000436968.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1517-4G>A",
"hgvs_p": null,
"transcript": "ENST00000525919.5",
"protein_id": "ENSP00000432010.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1514-4G>A",
"hgvs_p": null,
"transcript": "ENST00000529032.5",
"protein_id": "ENSP00000432327.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": -4,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1556-4G>A",
"hgvs_p": null,
"transcript": "ENST00000533248.5",
"protein_id": "ENSP00000433634.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1231,
"cds_start": -4,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1517-4G>A",
"hgvs_p": null,
"transcript": "NM_001300943.2",
"protein_id": "NP_001287872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "NM_001300944.2",
"protein_id": "NP_001287873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1514-4G>A",
"hgvs_p": null,
"transcript": "NM_020193.5",
"protein_id": "NP_064578.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": -4,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1514-4G>A",
"hgvs_p": null,
"transcript": "ENST00000334736.7",
"protein_id": "ENSP00000334130.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1322,
"cds_start": -4,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1262-4G>A",
"hgvs_p": null,
"transcript": "ENST00000524490.5",
"protein_id": "ENSP00000431166.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": -4,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.221-4G>A",
"hgvs_p": null,
"transcript": "ENST00000533972.5",
"protein_id": "ENSP00000434566.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.140-4G>A",
"hgvs_p": null,
"transcript": "ENST00000531998.1",
"protein_id": "ENSP00000433670.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": -4,
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"cds_length": 324,
"cdna_start": null,
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"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1556-4G>A",
"hgvs_p": null,
"transcript": "XM_047427267.1",
"protein_id": "XP_047283223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": -4,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1556-4G>A",
"hgvs_p": null,
"transcript": "XM_047427268.1",
"protein_id": "XP_047283224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "XM_047427269.1",
"protein_id": "XP_047283225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
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"cdna_length": 7122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1517-4G>A",
"hgvs_p": null,
"transcript": "XM_006718638.5",
"protein_id": "XP_006718701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": -4,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
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"cdna_length": 6965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1514-4G>A",
"hgvs_p": null,
"transcript": "XM_047427271.1",
"protein_id": "XP_047283227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1517-4G>A",
"hgvs_p": null,
"transcript": "XM_047427272.1",
"protein_id": "XP_047283228.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1306,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1559-4G>A",
"hgvs_p": null,
"transcript": "XM_047427273.1",
"protein_id": "XP_047283229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": -4,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EMSY",
"gene_hgnc_id": 18071,
"hgvs_c": "c.1514-4G>A",
"hgvs_p": null,
"transcript": "XM_047427274.1",
"protein_id": "XP_047283230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1305,
"cds_start": -4,
"cds_end": null,
"cds_length": 3918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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}