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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: 12-10309453-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10309453&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 10309453,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000336164.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_002262.5",
"protein_id": "NP_002253.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 179,
"cds_start": 73,
"cds_end": null,
"cds_length": 540,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 15563,
"mane_select": "ENST00000336164.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "ENST00000336164.9",
"protein_id": "ENSP00000338130.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 179,
"cds_start": 73,
"cds_end": null,
"cds_length": 540,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 15563,
"mane_select": "NM_002262.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "ENST00000381908.7",
"protein_id": "ENSP00000371333.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 179,
"cds_start": 73,
"cds_end": null,
"cds_length": 540,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 15549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "ENST00000543777.5",
"protein_id": "ENSP00000443584.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 158,
"cds_start": 73,
"cds_end": null,
"cds_length": 477,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.73T>A",
"hgvs_p": null,
"transcript": "ENST00000344825.10",
"protein_id": "ENSP00000344858.6",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.1726T>A",
"hgvs_p": null,
"transcript": "ENST00000540271.1",
"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": 2554,
"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": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.8-173T>A",
"hgvs_p": null,
"transcript": "ENST00000350274.9",
"protein_id": "ENSP00000310929.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_001351060.2",
"protein_id": "NP_001337989.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 185,
"cds_start": 73,
"cds_end": null,
"cds_length": 558,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_001414224.1",
"protein_id": "NP_001401153.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 185,
"cds_start": 73,
"cds_end": null,
"cds_length": 558,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 10776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_001114396.3",
"protein_id": "NP_001107868.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 179,
"cds_start": 73,
"cds_end": null,
"cds_length": 540,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_001351062.2",
"protein_id": "NP_001337991.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 179,
"cds_start": 73,
"cds_end": null,
"cds_length": 540,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 15528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "NM_001351063.2",
"protein_id": "NP_001337992.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 158,
"cds_start": 73,
"cds_end": null,
"cds_length": 477,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 15500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.4T>A",
"hgvs_p": "p.Ser2Thr",
"transcript": "NM_001414225.1",
"protein_id": "NP_001401154.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 156,
"cds_start": 4,
"cds_end": null,
"cds_length": 471,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 15379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "ENST00000543420.5",
"protein_id": "ENSP00000441074.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 106,
"cds_start": 73,
"cds_end": null,
"cds_length": 321,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "XM_047428821.1",
"protein_id": "XP_047284777.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 225,
"cds_start": 73,
"cds_end": null,
"cds_length": 678,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "XM_047428822.1",
"protein_id": "XP_047284778.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 224,
"cds_start": 73,
"cds_end": null,
"cds_length": 675,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "XM_024448974.2",
"protein_id": "XP_024304742.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 220,
"cds_start": 73,
"cds_end": null,
"cds_length": 663,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.73T>A",
"hgvs_p": "p.Ser25Thr",
"transcript": "XM_011520651.4",
"protein_id": "XP_011518953.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 186,
"cds_start": 73,
"cds_end": null,
"cds_length": 561,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.73T>A",
"hgvs_p": null,
"transcript": "ENST00000539374.1",
"protein_id": "ENSP00000438514.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.281T>A",
"hgvs_p": null,
"transcript": "NR_147038.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 15567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.281T>A",
"hgvs_p": null,
"transcript": "NR_147039.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 15513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "n.281T>A",
"hgvs_p": null,
"transcript": "NR_147040.2",
"protein_id": null,
"transcript_support_level": null,
"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": 15414,
"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": "KLRD1",
"gene_hgnc_id": 6378,
"hgvs_c": "c.8-173T>A",
"hgvs_p": null,
"transcript": "NM_007334.3",
"protein_id": "NP_031360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 447,
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}
],
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}