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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: 6-145627667-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145627667&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145627667,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367519.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "NM_005670.4",
"protein_id": "NP_005661.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 331,
"cds_start": 745,
"cds_end": null,
"cds_length": 996,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "ENST00000367519.9",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "ENST00000367519.9",
"protein_id": "ENSP00000356489.3",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 331,
"cds_start": 745,
"cds_end": null,
"cds_length": 996,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "NM_005670.4",
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "ENST00000435470.2",
"protein_id": "ENSP00000405913.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 317,
"cds_start": 745,
"cds_end": null,
"cds_length": 954,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"transcript": "ENST00000638262.1",
"protein_id": "ENSP00000492876.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 224,
"cds_start": 503,
"cds_end": null,
"cds_length": 675,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2679,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "ENST00000639423.1",
"protein_id": "ENSP00000492701.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 2886,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*589G>A",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"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": 3335,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000639799.1",
"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": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*589G>A",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"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": 3335,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"transcript": "NM_001018041.2",
"protein_id": "NP_001018051.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 317,
"cds_start": 745,
"cds_end": null,
"cds_length": 954,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"transcript": "NM_001360057.2",
"protein_id": "NP_001346986.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 224,
"cds_start": 503,
"cds_end": null,
"cds_length": 675,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2887,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "NM_001360064.2",
"protein_id": "NP_001346993.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 2922,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "NM_001360071.2",
"protein_id": "NP_001347000.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3384,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "NM_001368131.1",
"protein_id": "NP_001355060.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 3082,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "ENST00000611340.5",
"protein_id": "ENSP00000480268.1",
"transcript_support_level": 2,
"aa_start": 111,
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"aa_length": 193,
"cds_start": 331,
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"cdna_start": 472,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "ENST00000638778.1",
"protein_id": "ENSP00000491353.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 813,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "ENST00000638783.1",
"protein_id": "ENSP00000491338.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
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"cds_start": 331,
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"cdna_start": 463,
"cdna_end": null,
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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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "ENST00000639465.1",
"protein_id": "ENSP00000491180.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2203,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Met",
"transcript": "NM_001368129.2",
"protein_id": "NP_001355058.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 177,
"cds_start": 283,
"cds_end": null,
"cds_length": 534,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3290,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Met",
"transcript": "NM_001368132.1",
"protein_id": "NP_001355061.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 177,
"cds_start": 283,
"cds_end": null,
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"cdna_start": 639,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.89G>A",
"hgvs_p": "p.Gly30Asp",
"transcript": "ENST00000640980.1",
"protein_id": "ENSP00000491191.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 86,
"cds_start": 89,
"cds_end": null,
"cds_length": 261,
"cdna_start": 259,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "XM_011536116.2",
"protein_id": "XP_011534418.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2840,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Met",
"transcript": "XM_024446551.2",
"protein_id": "XP_024302319.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 193,
"cds_start": 331,
"cds_end": null,
"cds_length": 582,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 3026,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Met",
"transcript": "XM_017011302.2",
"protein_id": "XP_016866791.1",
"transcript_support_level": null,
"aa_start": 95,
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}
],
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}