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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: 12-104303981-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=104303981&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 104303981,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001008394.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EID3",
"gene_hgnc_id": 32961,
"hgvs_c": "c.47T>G",
"hgvs_p": "p.Leu16Arg",
"transcript": "NM_001008394.3",
"protein_id": "NP_001008395.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 47,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": "ENST00000527879.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EID3",
"gene_hgnc_id": 32961,
"hgvs_c": "c.47T>G",
"hgvs_p": "p.Leu16Arg",
"transcript": "ENST00000527879.2",
"protein_id": "ENSP00000435619.1",
"transcript_support_level": 6,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 47,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": "NM_001008394.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.415-7309T>G",
"hgvs_p": null,
"transcript": "NM_001093771.3",
"protein_id": "NP_001087240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": "ENST00000525566.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.415-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000525566.6",
"protein_id": "ENSP00000434516.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": "NM_001093771.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.121-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000526691.5",
"protein_id": "ENSP00000435929.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000503506.6",
"protein_id": "ENSP00000421934.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000526580.5",
"protein_id": "ENSP00000433887.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": -4,
"cds_end": null,
"cds_length": 311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-32-5778T>G",
"hgvs_p": null,
"transcript": "ENST00000526950.2",
"protein_id": "ENSP00000432812.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.121-7309T>G",
"hgvs_p": null,
"transcript": "NM_003330.4",
"protein_id": "NP_003321.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.115-7309T>G",
"hgvs_p": null,
"transcript": "NM_001261445.2",
"protein_id": "NP_001248374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.97-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000526390.5",
"protein_id": "ENSP00000435123.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "NM_182729.3",
"protein_id": "NP_877393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "NM_182742.3",
"protein_id": "NP_877419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3737,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "NM_182743.3",
"protein_id": "NP_877420.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000524698.5",
"protein_id": "ENSP00000433425.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
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"cds_length": 1500,
"cdna_start": null,
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"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-27-9264T>G",
"hgvs_p": null,
"transcript": "NM_001261446.2",
"protein_id": "NP_001248375.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-27-9264T>G",
"hgvs_p": null,
"transcript": "ENST00000529546.5",
"protein_id": "ENSP00000434919.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000527335.5",
"protein_id": "ENSP00000433599.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 527,
"cdna_start": null,
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"cdna_length": 786,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.97-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000531691.5",
"protein_id": "ENSP00000431925.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000531689.5",
"protein_id": "ENSP00000433507.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000526266.5",
"protein_id": "ENSP00000431294.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-228-5778T>G",
"hgvs_p": null,
"transcript": "ENST00000529784.5",
"protein_id": "ENSP00000436229.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": -4,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "c.-97+16631T>G",
"hgvs_p": null,
"transcript": "ENST00000529751.1",
"protein_id": "ENSP00000432273.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
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"cds_length": 134,
"cdna_start": null,
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"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNRD1",
"gene_hgnc_id": 12437,
"hgvs_c": "n.-36-7309T>G",
"hgvs_p": null,
"transcript": "ENST00000527688.5",
"protein_id": "ENSP00000433935.1",
"transcript_support_level": 2,
"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": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EID3",
"gene_hgnc_id": 32961,
"dbsnp": "rs772668809",
"frequency_reference_population": 0.000060342896,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000618435,
"gnomad_genomes_af": 0.0000459939,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012924998998641968,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0741,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001008394.3",
"gene_symbol": "EID3",
"hgnc_id": 32961,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.47T>G",
"hgvs_p": "p.Leu16Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001093771.3",
"gene_symbol": "TXNRD1",
"hgnc_id": 12437,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.415-7309T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}