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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: 9-83853800-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83853800&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83853800,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000297814.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "NM_017576.4",
"protein_id": "NP_060046.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3186,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": "ENST00000297814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "ENST00000297814.7",
"protein_id": "ENSP00000297814.2",
"transcript_support_level": 1,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3186,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": "NM_017576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2988T>G",
"hgvs_p": "p.Ile996Met",
"transcript": "ENST00000413982.5",
"protein_id": "ENSP00000401688.1",
"transcript_support_level": 1,
"aa_start": 996,
"aa_end": null,
"aa_length": 1335,
"cds_start": 2988,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2895T>G",
"hgvs_p": "p.Ile965Met",
"transcript": "ENST00000334204.6",
"protein_id": "ENSP00000333928.2",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2988T>G",
"hgvs_p": "p.Ile996Met",
"transcript": "NM_001271927.3",
"protein_id": "NP_001258856.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1335,
"cds_start": 2988,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2895T>G",
"hgvs_p": "p.Ile965Met",
"transcript": "NM_001271928.3",
"protein_id": "NP_001258857.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3044,
"cdna_end": null,
"cdna_length": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2793T>G",
"hgvs_p": "p.Ile931Met",
"transcript": "NM_001354069.2",
"protein_id": "NP_001340998.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2793,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.1746T>G",
"hgvs_p": "p.Ile582Met",
"transcript": "NM_001354070.2",
"protein_id": "NP_001340999.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 921,
"cds_start": 1746,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.1530T>G",
"hgvs_p": "p.Ile510Met",
"transcript": "NM_001354071.2",
"protein_id": "NP_001341000.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 849,
"cds_start": 1530,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_011518848.4",
"protein_id": "XP_011517150.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_011518849.3",
"protein_id": "XP_011517151.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 3520,
"cdna_end": null,
"cdna_length": 7442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_011518850.3",
"protein_id": "XP_011517152.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
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"cds_length": 4284,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_017014900.2",
"protein_id": "XP_016870389.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
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"cdna_start": 3668,
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"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_017014901.3",
"protein_id": "XP_016870390.1",
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"aa_start": 1088,
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"cds_start": 3264,
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"cdna_start": 3600,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_017014902.2",
"protein_id": "XP_016870391.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
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"cdna_start": 3904,
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"cdna_length": 7826,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_047423570.1",
"protein_id": "XP_047279526.1",
"transcript_support_level": null,
"aa_start": 1088,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3264T>G",
"hgvs_p": "p.Ile1088Met",
"transcript": "XM_047423571.1",
"protein_id": "XP_047279527.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1427,
"cds_start": 3264,
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"cdna_start": 3688,
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"cdna_length": 7610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "XM_017014903.2",
"protein_id": "XP_016870392.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3186,
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"cdna_start": 4040,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "XM_017014904.2",
"protein_id": "XP_016870393.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "XM_047423572.1",
"protein_id": "XP_047279528.1",
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"aa_start": 1062,
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},
{
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"aa_alt": "M",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "XM_047423573.1",
"protein_id": "XP_047279529.1",
"transcript_support_level": null,
"aa_start": 1062,
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"aa_length": 1401,
"cds_start": 3186,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3186T>G",
"hgvs_p": "p.Ile1062Met",
"transcript": "XM_047423574.1",
"protein_id": "XP_047279530.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3186,
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"cdna_start": 3483,
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"cdna_length": 7405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
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],
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{
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"PP3"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}