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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: 6-24564312-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24564312&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24564312,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378214.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_014809.4",
"protein_id": "NP_055624.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "ENST00000378214.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "ENST00000378214.8",
"protein_id": "ENSP00000367459.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 6838,
"mane_select": "NM_014809.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "ENST00000537886.5",
"protein_id": "ENSP00000439700.1",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 6622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Val185Ala",
"transcript": "ENST00000616673.4",
"protein_id": "ENSP00000483665.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 483,
"cds_start": 554,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_001168375.2",
"protein_id": "NP_001161847.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_001350403.2",
"protein_id": "NP_001337332.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2303T>C",
"hgvs_p": "p.Val768Ala",
"transcript": "NM_001350404.2",
"protein_id": "NP_001337333.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2294T>C",
"hgvs_p": "p.Val765Ala",
"transcript": "NM_001168374.2",
"protein_id": "NP_001161846.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2294,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2294T>C",
"hgvs_p": "p.Val765Ala",
"transcript": "ENST00000535378.5",
"protein_id": "ENSP00000442403.1",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2294,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Val741Ala",
"transcript": "NM_001350405.2",
"protein_id": "NP_001337334.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2222,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2186T>C",
"hgvs_p": "p.Val729Ala",
"transcript": "NM_001168376.2",
"protein_id": "NP_001161848.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2186,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2186T>C",
"hgvs_p": "p.Val729Ala",
"transcript": "NM_001350406.2",
"protein_id": "NP_001337335.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2186,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2186T>C",
"hgvs_p": "p.Val729Ala",
"transcript": "ENST00000430948.6",
"protein_id": "ENSP00000401086.2",
"transcript_support_level": 2,
"aa_start": 729,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2186,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 6620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_001168377.2",
"protein_id": "NP_001161849.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2321,
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"cdna_start": 2882,
"cdna_end": null,
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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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_001350407.2",
"protein_id": "NP_001337336.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 978,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "NM_001350408.2",
"protein_id": "NP_001337337.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 978,
"cds_start": 2321,
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"cdna_start": 2882,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1865T>C",
"hgvs_p": "p.Val622Ala",
"transcript": "NM_001350409.2",
"protein_id": "NP_001337338.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 920,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1865T>C",
"hgvs_p": "p.Val622Ala",
"transcript": "NM_001350410.2",
"protein_id": "NP_001337339.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 920,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 6642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Val185Ala",
"transcript": "NM_001252328.2",
"protein_id": "NP_001239257.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 483,
"cds_start": 554,
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"cdna_start": 1356,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2294T>C",
"hgvs_p": "p.Val765Ala",
"transcript": "XM_017011541.2",
"protein_id": "XP_016867030.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2294,
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"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 7038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2321T>C",
"hgvs_p": "p.Val774Ala",
"transcript": "XM_047419602.1",
"protein_id": "XP_047275558.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2321,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Val741Ala",
"transcript": "XM_017011544.2",
"protein_id": "XP_016867033.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2222,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
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{
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"clinvar_disease": "",
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}
],
"message": null
}