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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: 3-47235541-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47235541&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47235541,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413976.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "NM_182902.4",
"protein_id": "NP_878905.2",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182902.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000684063.1",
"protein_id": "ENSP00000507186.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684063.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000452770.6",
"protein_id": "ENSP00000391100.2",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452770.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Tyr700Cys",
"transcript": "ENST00000444589.6",
"protein_id": "ENSP00000414987.2",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 725,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444589.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2393A>G",
"hgvs_p": "p.Tyr798Cys",
"transcript": "NM_001413976.1",
"protein_id": "NP_001400905.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 823,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413976.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2336A>G",
"hgvs_p": "p.Tyr779Cys",
"transcript": "NM_001413975.1",
"protein_id": "NP_001400904.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 804,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413975.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "NM_001134878.3",
"protein_id": "NP_001128350.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134878.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000265529.7",
"protein_id": "ENSP00000265529.3",
"transcript_support_level": 5,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265529.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000888734.1",
"protein_id": "ENSP00000558793.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888734.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000888735.1",
"protein_id": "ENSP00000558794.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888735.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000888736.1",
"protein_id": "ENSP00000558795.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888736.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "ENST00000888737.1",
"protein_id": "ENSP00000558796.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888737.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2231A>G",
"hgvs_p": "p.Tyr744Cys",
"transcript": "ENST00000964531.1",
"protein_id": "ENSP00000634590.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 769,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964531.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2117A>G",
"hgvs_p": "p.Tyr706Cys",
"transcript": "ENST00000964530.1",
"protein_id": "ENSP00000634589.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 731,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964530.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Tyr700Cys",
"transcript": "NM_022342.6",
"protein_id": "NP_071737.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 725,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022342.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Tyr700Cys",
"transcript": "ENST00000964529.1",
"protein_id": "ENSP00000634588.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 725,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964529.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2069A>G",
"hgvs_p": "p.Tyr690Cys",
"transcript": "NM_001377474.1",
"protein_id": "NP_001364403.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 715,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377474.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1874A>G",
"hgvs_p": "p.Tyr625Cys",
"transcript": "NM_001377475.1",
"protein_id": "NP_001364404.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 650,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377475.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "XM_017007029.2",
"protein_id": "XP_016862518.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007029.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2294A>G",
"hgvs_p": "p.Tyr765Cys",
"transcript": "XM_047448709.1",
"protein_id": "XP_047304665.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 790,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448709.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.Tyr733Cys",
"transcript": "XM_005265389.5",
"protein_id": "XP_005265446.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 758,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265389.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Tyr723Cys",
"transcript": "XM_006713291.4",
"protein_id": "XP_006713354.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
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"cds_start": 2168,
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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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],
"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
}